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<h1><a data-section="Header" data-ga-action="Click-on"
data-ga-label="dbSNP Short Genetic Variations"
ref="section=Header&action=Click-on&label=dbSNP Short Genetic Variations"
href="/snp/">dbSNP</a>
<span class="uswds-gray tagline">Short Genetic Variations</span>
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<h3 class="usa-alert-heading">Welcome to the Reference SNP (rs) Report</h3>
<p class="usa-alert-text">All alleles are reported in the <a href="https://www.ncbi.nlm.nih.gov/core/assets/snp/docs/RefSNP_orientation_updates.pdf" target="_blank"
data-ga-action="Click for forward orientation" data-ga-category="Info panel"
data-ga-label="Forward orientation">Forward orientation</a>. Click on the
<a href="#variant_details" id="variantlink"
data-ga-action="Click for variant details" data-ga-category="Info panel"
data-ga-label="Forward orientation">Variant Details tab</a> for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the
<a href="#hgvs_tab" id="hgvslink"
data-ga-action="Click for aliases tab" data-ga-category="Info panel"
data-ga-label="HGVS tab">HGVS tab</a>.</p>
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<h3>Reference SNP (rs) Report</h3>
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<p id="main_tp">
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.<br/>
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.<br/>
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors. <br/>
For more information see <a class="external-link" href="/snp/docs/refsnp_report/helpdoc"> Help documentation</a>.</p>
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<h2 id="refsnp_id">rs80359550</h2>
</div>
</div>
<div class="accession usa-width-one-third">
<p>Current Build <span>156</span></p>
<p>Released <span>
September 21, 2022
</span></p>
</div>
</div>
<div class="summary-box usa-grid-full">
<dl class="usa-width-one-half">
<dt>Organism</dt>
<dd class="species_name">Homo sapiens</dd>
<dt>Position</dt>
<dd>
<span>chr13:32340301 </span><span>(GRCh38.p14) </span><a data-width="640px" href="#pos_tp"
ref="section=Summary&action=Click-on-Tooltip&label=pos_tp"
data-section="Summary" data-ga-action="Click-on-Tooltip"
data-ga-label="pos_tp" class="fa fa-question-circle ncbiPopper" id="position_tooltip"><span class="usa-sr-only">Help</span></a><p id="pos_tp">The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See <a href="/snp/docs/refsnp_report/helpdoc/">here</a> for details.</p>
</dd>
<dt>Alleles</dt>
<dd>
delT
</dd>
<dt>Variation Type</dt>
<dd>
Deletion
</dd>
<dt>Frequency</dt>
<dd>
<div>
delT=0.000110
(29/264690, TOPMED)
</div><div>
delT=0.000291
(73/250700, GnomAD_exome)
</div><span>
delT=0.000185 (26/140208, GnomAD)
</span><span>(<a id="expandfrequency" data-freq-remn="4"
data-is-icon="false" data-section="Summary" data-ga-action="Click-on"
data-ga-label="Frequency" data-targets="#remn_summ_freq" href="#remn_summ_freq"
ref="section=Summary&action=Click-on&label=Frequency">+ 4 more</a>)</span><div class="ui-widget hide_elm" id="remn_summ_freq"><div>
delT=0.000265
(32/120698, ExAC)
</div><div>
delT=0.00000
(0/78698, PAGE_STUDY)
</div><div>
delT=0.00074
(17/23038, ALFA)
</div><div>
delT=0.00016
(2/12514, GO-ESP)
</div></div>
</dd>
</dl>
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<dt>Clinical Significance</dt>
<dd>
Reported in <a target="_blank" data-section="Summary" data-ga-action="Click-on"
data-ga-label="Reported in ClinVar"
ref="section=Summary&action=Click-on&label=Reported in ClinVar"
href="/clinvar?term=((24364[AlleleID]))">ClinVar</a>
</dd>
<dt>Gene : Consequence</dt>
<dd>
<span>BRCA2 : Frameshift Variant</span>
</dd>
<dt>Publications</dt>
<dd>
<a id="snp_pub_count" href="#publications">39
citations
</a>
</dd>
<dt>Genomic View</dt>
<dd>
<a href="#seq_hash" data-section="Summary" data-ga-action="Click-on"
data-ga-label="Genomic View See rs on genome"
ref="section=Summary&action=Click-on&label=Genomic View See rs on genome">See rs on
genome</a>
</dd>
</dl>
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class="js-tablist__link">Frequency
<span aria-hidden="true"></span></a>
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data-ga-action="Click-on-horizontal" data-ga-label="Variant Details" id="label_id_first"
class="js-tablist__link">Variant Details
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Significance
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class="js-tablist__link">HGVS
<span aria-hidden="true"></span></a>
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data-ga-action="Click-on-horizontal" data-ga-label="Publications" id="label_id_seventh"
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data-ga-action="Click-on-horizontal" data-ga-label="Flanks" id="label_id_eighth"
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ref="section=Frequency&action=Click-on-Popper&label=popfreq_tp"
data-section="Frequency" data-ga-action="Click-on-Popper"
data-ga-label="popfreq_tp" >
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<p id="popfreq_tp">
<font size="5" color="blue"><strong><a href="/snp/docs/gsr/alfa" rel="nofollow" target="_blank">ALFA Allele Frequency</a></strong></font><br/>
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project <a href="/snp/docs/gsr/alfa" rel="nofollow" target="_blank">page</a> including descriptions, data access, and terms of use.
</p>
<div>
<span class="build_id_container"><span class="build_id_label">Release Version:</span>&nbsp;20231103111315</span>
</div>
<div id="popfreq_table" data-section="PopFrequency" data-ga-action="ScrollPopFrequency" data-ga-label="popfreq" class="popfreq_table">
<table id="popfreq_datatable" class="stripe">
<thead>
<tr>
<th title="Continental population name">Population</th>
<th title="Global (total) and sub-populations">Group</th>
<th title="Total allele counts by population">Sample Size</th>
<th title="Reference assembly allele">Ref Allele</th>
<th title="Alternate allele">Alt Allele</th>
<th title="Reference Homozygous genotype Frequency">Ref HMOZ</th>
<th title="Alternate Homozygous genotype Frequency">Alt HMOZ</th>
<th title="Heterozygous genotype Frequency">HTRZ</th>
<th title="-Log(HWE Probability)">HWEP</th>
</tr>
</thead>
<tbody>
<tr class="par_row">
<td>
<a href="/biosample/SAMN10492705">Total</a>
</td>
<td>Global</td>
<td class="samp_s">23038</td>
<td class="popfreq_ref_allele">T=0.99926</td>
<td class="popfreq_alt_allele">=0.00074</td>
<td class="popfreq_alt_allele">0.998524</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.001476</td>
<td class="popfreq_alt_allele">0</td>
</tr>
<tr class="chi_row">
<td>
<a href="/biosample/SAMN10492695">European</a>
</td>
<td>Sub</td>
<td class="samp_s">15752</td>
<td class="popfreq_ref_allele">T=0.99937</td>
<td class="popfreq_alt_allele">=0.00063</td>
<td class="popfreq_alt_allele">0.99873</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.00127</td>
<td class="popfreq_alt_allele">0</td>
</tr>
<tr class="chi_row">
<td>
<a href="/biosample/SAMN10492703">African</a>
</td>
<td>Sub</td>
<td class="samp_s">3492</td>
<td class="popfreq_ref_allele">T=0.9997</td>
<td class="popfreq_alt_allele">=0.0003</td>
<td class="popfreq_alt_allele">0.999427</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.000573</td>
<td class="popfreq_alt_allele">0</td>
</tr>
<tr class="chi_row">
<td>
<a href="/biosample/SAMN10492696">African Others</a>
</td>
<td>Sub</td>
<td class="samp_s">122</td>
<td class="popfreq_ref_allele">T=1.000</td>
<td class="popfreq_alt_allele">=0.000</td>
<td class="popfreq_alt_allele">1.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">N/A</td>
</tr>
<tr class="chi_row">
<td>
<a href="/biosample/SAMN10492698">African American</a>
</td>
<td>Sub</td>
<td class="samp_s">3370</td>
<td class="popfreq_ref_allele">T=0.9997</td>
<td class="popfreq_alt_allele">=0.0003</td>
<td class="popfreq_alt_allele">0.999407</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.000593</td>
<td class="popfreq_alt_allele">0</td>
</tr>
<tr class="chi_row">
<td>
<a href="/biosample/SAMN10492704">Asian</a>
</td>
<td>Sub</td>
<td class="samp_s">168</td>
<td class="popfreq_ref_allele">T=1.000</td>
<td class="popfreq_alt_allele">=0.000</td>
<td class="popfreq_alt_allele">1.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">N/A</td>
</tr>
<tr class="chi_row">
<td>
<a href="/biosample/SAMN10492697">East Asian</a>
</td>
<td>Sub</td>
<td class="samp_s">112</td>
<td class="popfreq_ref_allele">T=1.000</td>
<td class="popfreq_alt_allele">=0.000</td>
<td class="popfreq_alt_allele">1.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">N/A</td>
</tr>
<tr class="chi_row">
<td>
<a href="/biosample/SAMN10492701">Other Asian</a>
</td>
<td>Sub</td>
<td class="samp_s">56</td>
<td class="popfreq_ref_allele">T=1.00</td>
<td class="popfreq_alt_allele">=0.00</td>
<td class="popfreq_alt_allele">1.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">N/A</td>
</tr>
<tr class="chi_row">
<td>
<a href="/biosample/SAMN10492699">Latin American 1</a>
</td>
<td>Sub</td>
<td class="samp_s">146</td>
<td class="popfreq_ref_allele">T=1.000</td>
<td class="popfreq_alt_allele">=0.000</td>
<td class="popfreq_alt_allele">1.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">N/A</td>
</tr>
<tr class="chi_row">
<td>
<a href="/biosample/SAMN10492700">Latin American 2</a>
</td>
<td>Sub</td>
<td class="samp_s">610</td>
<td class="popfreq_ref_allele">T=1.000</td>
<td class="popfreq_alt_allele">=0.000</td>
<td class="popfreq_alt_allele">1.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">N/A</td>
</tr>
<tr class="chi_row">
<td>
<a href="/biosample/SAMN10492702">South Asian</a>
</td>
<td>Sub</td>
<td class="samp_s">98</td>
<td class="popfreq_ref_allele">T=1.00</td>
<td class="popfreq_alt_allele">=0.00</td>
<td class="popfreq_alt_allele">1.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">N/A</td>
</tr>
<tr class="chi_row">
<td>
<a href="/biosample/SAMN11605645">Other</a>
</td>
<td>Sub</td>
<td class="samp_s">2772</td>
<td class="popfreq_ref_allele">T=0.9978</td>
<td class="popfreq_alt_allele">=0.0022</td>
<td class="popfreq_alt_allele">0.995671</td>
<td class="popfreq_alt_allele">0.0</td>
<td class="popfreq_alt_allele">0.004329</td>
<td class="popfreq_alt_allele">0</td>
</tr>
</tbody>
</table>
<br/>
<br/>
</div>
<a data-width="640px" href="#frequency_tp"
ref="section=Frequency&action=Click-on-Tooltip&label=frequency_tp"
data-section="Frequency" data-ga-action="Click-on-Tooltip"
data-ga-label="frequency_tp" class="fa fa-question-circle align-right ncbiPopper">
<span class="usa-sr-only">Help</span>
</a>
<p id="frequency_tp">
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
</p>
<a href="/snp/rs80359550/download/frequency">
<i class="fa fa-download" aria-hidden="true"></i> Download</a>
<div id="dbsnp_freq_table">
<table id="dbsnp_freq_datatable" class="stripe">
<thead>
<tr>
<th class="study_header">Study</th>
<th class="population_header">Population</th>
<th>Group</th>
<th>Sample Size</th>
<th>Ref Allele</th>
<th>Alt Allele</th>
</tr>
</thead>
<tbody>
<tr class="par_row">
<td>
<a href="/bioproject/PRJNA400167">TopMed</a>
</td>
<td>
Global
</td>
<td>Study-wide</td>
<td class="samp_s">264690</td>
<td>T=0.999890</td>
<td>delT=0.000110</td>
</tr>
<tr class="par_row">
<td>
<a href="/bioproject/PRJNA398795">gnomAD - Exomes</a>
</td>
<td>
<a href="/biosample/SAMN07488253">Global</a>
</td>
<td>Study-wide</td>
<td class="samp_s">250700</td>
<td>T=0.999709</td>
<td>delT=0.000291</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA398795">gnomAD - Exomes</a>
</td>
<td>
<a href="/biosample/SAMN10181265">European</a>
</td>
<td>Sub</td>
<td class="samp_s">135118</td>
<td>T=0.999919</td>
<td>delT=0.000081</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA398795">gnomAD - Exomes</a>
</td>
<td>
Asian
</td>
<td>Sub</td>
<td class="samp_s">49002</td>
<td>T=1.00000</td>
<td>delT=0.00000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA398795">gnomAD - Exomes</a>
</td>
<td>
<a href="/biosample/SAMN07488255">American</a>
</td>
<td>Sub</td>
<td class="samp_s">34592</td>
<td>T=1.00000</td>
<td>delT=0.00000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA398795">gnomAD - Exomes</a>
</td>
<td>
<a href="/biosample/SAMN07488254">African</a>
</td>
<td>Sub</td>
<td class="samp_s">15820</td>
<td>T=1.00000</td>
<td>delT=0.00000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA398795">gnomAD - Exomes</a>
</td>
<td>
<a href="/biosample/SAMN07488252">Ashkenazi Jewish</a>
</td>
<td>Sub</td>
<td class="samp_s">10074</td>
<td>T=0.99414</td>
<td>delT=0.00586</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA398795">gnomAD - Exomes</a>
</td>
<td>
<a href="/biosample/SAMN07488248">Other</a>
</td>
<td>Sub</td>
<td class="samp_s">6094</td>
<td>T=0.9995</td>
<td>delT=0.0005</td>
</tr>
<tr class="par_row">
<td>
<a href="/bioproject/PRJNA398795">gnomAD - Genomes</a>
</td>
<td>
<a href="/biosample/SAMN07488253">Global</a>
</td>
<td>Study-wide</td>
<td class="samp_s">140208</td>
<td>T=0.999815</td>
<td>delT=0.000185</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA398795">gnomAD - Genomes</a>
</td>
<td>
<a href="/biosample/SAMN10181265">European</a>
</td>
<td>Sub</td>
<td class="samp_s">75926</td>
<td>T=0.99992</td>
<td>delT=0.00008</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA398795">gnomAD - Genomes</a>
</td>
<td>
<a href="/biosample/SAMN07488254">African</a>
</td>
<td>Sub</td>
<td class="samp_s">42032</td>
<td>T=1.00000</td>
<td>delT=0.00000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA398795">gnomAD - Genomes</a>
</td>
<td>
<a href="/biosample/SAMN07488255">American</a>
</td>
<td>Sub</td>
<td class="samp_s">13654</td>
<td>T=1.00000</td>
<td>delT=0.00000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA398795">gnomAD - Genomes</a>
</td>
<td>
<a href="/biosample/SAMN07488252">Ashkenazi Jewish</a>
</td>
<td>Sub</td>
<td class="samp_s">3318</td>
<td>T=0.9940</td>
<td>delT=0.0060</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA398795">gnomAD - Genomes</a>
</td>
<td>
<a href="/biosample/SAMN07488251">East Asian</a>
</td>
<td>Sub</td>
<td class="samp_s">3126</td>
<td>T=1.0000</td>
<td>delT=0.0000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA398795">gnomAD - Genomes</a>
</td>
<td>
<a href="/biosample/SAMN07488248">Other</a>
</td>
<td>Sub</td>
<td class="samp_s">2152</td>
<td>T=1.0000</td>
<td>delT=0.0000</td>
</tr>
<tr class="par_row">
<td>
<a href="/bioproject/PRJEB8661">ExAC</a>
</td>
<td>
<a href="/biosample/SAMN07490465">Global</a>
</td>
<td>Study-wide</td>
<td class="samp_s">120698</td>
<td>T=0.999735</td>
<td>delT=0.000265</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJEB8661">ExAC</a>
</td>
<td>
Europe
</td>
<td>Sub</td>
<td class="samp_s">73152</td>
<td>T=0.99956</td>
<td>delT=0.00044</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJEB8661">ExAC</a>
</td>
<td>
Asian
</td>
<td>Sub</td>
<td class="samp_s">25160</td>
<td>T=1.00000</td>
<td>delT=0.00000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJEB8661">ExAC</a>
</td>
<td>
American
</td>
<td>Sub</td>
<td class="samp_s">11576</td>
<td>T=1.00000</td>
<td>delT=0.00000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJEB8661">ExAC</a>
</td>
<td>
African
</td>
<td>Sub</td>
<td class="samp_s">9908</td>
<td>T=1.0000</td>
<td>delT=0.0000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJEB8661">ExAC</a>
</td>
<td>
<a href="/biosample/SAMN07486028">Other</a>
</td>
<td>Sub</td>
<td class="samp_s">902</td>
<td>T=1.000</td>
<td>delT=0.000</td>
</tr>
<tr class="par_row">
<td>
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
</td>
<td>
<a href="/biosample/SAMN10868975">Global</a>
</td>
<td>Study-wide</td>
<td class="samp_s">78698</td>
<td>T=1.00000</td>
<td>delT=0.00000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
</td>
<td>
<a href="/biosample/SAMN10868721">AfricanAmerican</a>
</td>
<td>Sub</td>
<td class="samp_s">32516</td>
<td>T=1.00000</td>
<td>delT=0.00000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
</td>
<td>
<a href="/biosample/SAMN10868735">Mexican</a>
</td>
<td>Sub</td>
<td class="samp_s">10808</td>
<td>T=1.00000</td>
<td>delT=0.00000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
</td>
<td>
<a href="/biosample/SAMN10868722">Asian</a>
</td>
<td>Sub</td>
<td class="samp_s">8316</td>
<td>T=1.0000</td>
<td>delT=0.0000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
</td>
<td>
<a href="/biosample/SAMN10868968">PuertoRican</a>
</td>
<td>Sub</td>
<td class="samp_s">7918</td>
<td>T=1.0000</td>
<td>delT=0.0000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
</td>
<td>
<a href="/biosample/SAMN10868777">NativeHawaiian</a>
</td>
<td>Sub</td>
<td class="samp_s">4534</td>
<td>T=1.0000</td>
<td>delT=0.0000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
</td>
<td>
<a href="/biosample/SAMN10868733">Cuban</a>
</td>
<td>Sub</td>
<td class="samp_s">4230</td>
<td>T=1.0000</td>
<td>delT=0.0000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
</td>
<td>
<a href="/biosample/SAMN10868734">Dominican</a>
</td>
<td>Sub</td>
<td class="samp_s">3828</td>
<td>T=1.0000</td>
<td>delT=0.0000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
</td>
<td>
<a href="/biosample/SAMN10868729">CentralAmerican</a>
</td>
<td>Sub</td>
<td class="samp_s">2450</td>
<td>T=1.0000</td>
<td>delT=0.0000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
</td>
<td>
<a href="/biosample/SAMN10868969">SouthAmerican</a>
</td>
<td>Sub</td>
<td class="samp_s">1982</td>
<td>T=1.0000</td>
<td>delT=0.0000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
</td>
<td>
<a href="/biosample/SAMN10868739">NativeAmerican</a>
</td>
<td>Sub</td>
<td class="samp_s">1260</td>
<td>T=1.0000</td>
<td>delT=0.0000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA168052">The PAGE Study</a>
</td>
<td>
<a href="/biosample/SAMN10868970">SouthAsian</a>
</td>
<td>Sub</td>
<td class="samp_s">856</td>
<td>T=1.000</td>
<td>delT=0.000</td>
</tr>
<tr class="par_row">
<td>
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
</td>
<td>
<a href="/biosample/SAMN10492705">Total</a>
</td>
<td>Global</td>
<td class="samp_s">23038</td>
<td>T=0.99926</td>
<td>delT=0.00074</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
</td>
<td>
<a href="/biosample/SAMN10492695">European</a>
</td>
<td>Sub</td>
<td class="samp_s">15752</td>
<td>T=0.99937</td>
<td>delT=0.00063</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
</td>
<td>
<a href="/biosample/SAMN10492703">African</a>
</td>
<td>Sub</td>
<td class="samp_s">3492</td>
<td>T=0.9997</td>
<td>delT=0.0003</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
</td>
<td>
<a href="/biosample/SAMN11605645">Other</a>
</td>
<td>Sub</td>
<td class="samp_s">2772</td>
<td>T=0.9978</td>
<td>delT=0.0022</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
</td>
<td>
<a href="/biosample/SAMN10492700">Latin American 2</a>
</td>
<td>Sub</td>
<td class="samp_s">610</td>
<td>T=1.000</td>
<td>delT=0.000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
</td>
<td>
<a href="/biosample/SAMN10492704">Asian</a>
</td>
<td>Sub</td>
<td class="samp_s">168</td>
<td>T=1.000</td>
<td>delT=0.000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
</td>
<td>
<a href="/biosample/SAMN10492699">Latin American 1</a>
</td>
<td>Sub</td>
<td class="samp_s">146</td>
<td>T=1.000</td>
<td>delT=0.000</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA507278">Allele Frequency Aggregator</a>
</td>
<td>
<a href="/biosample/SAMN10492702">South Asian</a>
</td>
<td>Sub</td>
<td class="samp_s">98</td>
<td>T=1.00</td>
<td>delT=0.00</td>
</tr>
<tr class="par_row">
<td>
<a href="/bioproject/PRJNA192955">GO Exome Sequencing Project</a>
</td>
<td>
Global
</td>
<td>Study-wide</td>
<td class="samp_s">12514</td>
<td>T=0.99984</td>
<td>delT=0.00016</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA192955">GO Exome Sequencing Project</a>
</td>
<td>
European American
</td>
<td>Sub</td>
<td class="samp_s">8252</td>
<td>T=0.9998</td>
<td>delT=0.0002</td>
</tr>
<tr class="chi_row">
<td>
<a href="/bioproject/PRJNA192955">GO Exome Sequencing Project</a>
</td>
<td>
African American
</td>
<td>Sub</td>
<td class="samp_s">4262</td>
<td>T=1.0000</td>
<td>delT=0.0000</td>
</tr>
</tbody>
</table>
</div>
</div>
<div id="variant_details" class="js-tabcontent">
<a data-width="640px" href="#variant_details_tp"
ref="section=Variant Details&action=Click-on-Tooltip&label=variant_details_tp"
data-section="Variant Details" data-ga-action="Click-on-Tooltip"
data-ga-label="variant_details_tp" class="fa fa-question-circle align-right ncbiPopper">
<span class="usa-sr-only">Help</span>
</a>
<p id="variant_details_tp">
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with <a class="external-link" href="/variation/docs/glossary/#MolCon" rel="nofollow" target="_blank">molecular consequences</a> from <a class="external-link" href="http://www.sequenceontology.org/" rel="nofollow" target="_blank">Sequence Ontology</a>. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference &gt; Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.</p>
<div>
<div class="sect_heading">Genomic Placements</div>
<div id="gene_plac_allele">
<!-- display class is a short-cut for specifying the stripe hover order-column
row-border as the class name for a table -->
<table id="genomics_placements_table" class="stripe">
<thead>
<tr>
<th>Sequence name</th>
<th>Change</th>
</tr>
</thead>
<tbody>
<tr>
<td>GRCh38.p14 chr 13</td>
<td>NC_000013.11:g.32340301del</td>
</tr>
<tr>
<td>GRCh37.p13 chr 13</td>
<td>NC_000013.10:g.32914438del</td>
</tr>
<tr>
<td>BRCA2 RefSeqGene (LRG_293)</td>
<td>NG_012772.3:g.29822del</td>
</tr>
</tbody>
</table>
</div>
<div id="trans_anno_allele">
<div class="sect_heading">
Gene: <a target="_blank" data-section="Variant Details"
data-ga-action="Click-on"
data-ga-label="transcript_annotation_gene_link"
ref="section=Variant Details&action=Click-on&label=transcript_annotation_gene_link"
href="/gene/675">BRCA2</a>, BRCA2 DNA repair associated
(plus strand)
</div>
<table class="trans_anno_allele_datatable" class="stripe">
<thead>
<tr>
<th>Molecule type</th>
<th>Change</th>
<th>Amino acid[Codon]</th>
<th>SO Term</th>
</tr>
</thead>
<tbody>
<tr class="vard_odd">
<td>BRCA2 transcript variant 1</td>
<td>
<span>
NM_000059.4:c.5946del
</span>
</td>
<td>
<span><span class="codon-plain">S [</span><span class="codon-ghost">AG</span><span class="codon-hilite">T</span><span class="codon-plain">] &gt; R [</span><span class="codon-ghost">AG</span><span class="codon-plain">]</span></span>
</td>
<td>
Coding Sequence Variant
</td>
</tr>
<tr class="vard_odd">
<td>breast cancer type 2 susceptibility protein isoform 1</td>
<td>
<span>
NP_000050.3:p.Ser1982fs
</span>
</td>
<td>
<span>
S (Ser) > R (Arg)
</span>
</td>
<td>
Frameshift Variant
</td>
</tr>
</tbody>
</table>
</div>
</div>
</div>
<div id="clinical_significance" class="js-tabcontent">
<div>
<a data-width="640px" href="#clin_sig_tp"
ref="section=Clinical Significance&action=Click-on-Tooltip&label=clinical_significance_tp"
data-section="Clinical Significance" data-ga-action="Click-on-Tooltip"
data-ga-label="clinical_significance_tp"
class="fa fa-question-circle align-right ncbiPopper">
<span class="usa-sr-only">Help</span>
</a>
<p id="clin_sig_tp">
Clinical Significance tab shows a list of <a class="external-link" href="/clinvar/docs/clinsig" rel="nofollow" target="_blank">clinical significance </a>entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. <a href="/clinvar/RCV000001615.2" rel="nofollow" target="_blank">RCV000001615.2</a>) or Allele ID (i.e. <a href="/clinvar/variation/12274/" rel="nofollow" target="_blank">12274</a>) to access full ClinVar report.</p>
<div class="sect_heading">Allele: delT (allele ID:
<a ref="section=Clinical Significance&action=Click-on&label=allele_link"
target="_blank" href="/clinvar?term=(24364[AlleleID])"
data-section="Clinical Significance"
data-ga-action="Click-on"
data-ga-label="allele_link">
24364
</a>)
</div>
<table id="clinical_significance_datatable" class="stripe" data-height="15em">
<thead>
<tr>
<th>ClinVar Accession</th>
<th>Disease Names</th>
<th>Clinical Significance</th>
</tr>
</thead>
<tbody>
<tr>
<td><a target="_blank" data-section="Clinical Significance"
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
href="/clinvar/RCV000009910.26">RCV000009910.26</a>
</td>
<td>Breast-ovarian cancer, familial, susceptibility to, 2</td>
<td>Pathogenic</td>
</tr>
<tr>
<td><a target="_blank" data-section="Clinical Significance"
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
href="/clinvar/RCV000009911.6">RCV000009911.6</a>
</td>
<td>Pancreatic cancer, susceptibility to, 2</td>
<td>Risk-Factor</td>
</tr>
<tr>
<td><a target="_blank" data-section="Clinical Significance"
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
href="/clinvar/RCV000009912.6">RCV000009912.6</a>
</td>
<td>Fanconi anemia complementation group D1</td>
<td>Pathogenic</td>
</tr>
<tr>
<td><a target="_blank" data-section="Clinical Significance"
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
href="/clinvar/RCV000034451.29">RCV000034451.29</a>
</td>
<td>Hereditary breast ovarian cancer syndrome</td>
<td>Pathogenic</td>
</tr>
<tr>
<td><a target="_blank" data-section="Clinical Significance"
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
href="/clinvar/RCV000044800.12">RCV000044800.12</a>
</td>
<td>Familial cancer of breast</td>
<td>Pathogenic</td>
</tr>
<tr>
<td><a target="_blank" data-section="Clinical Significance"
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
href="/clinvar/RCV000129627.11">RCV000129627.11</a>
</td>
<td>Hereditary cancer-predisposing syndrome</td>
<td>Pathogenic</td>
</tr>
<tr>
<td><a target="_blank" data-section="Clinical Significance"
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
href="/clinvar/RCV000212245.29">RCV000212245.29</a>
</td>
<td>not provided</td>
<td>Pathogenic</td>
</tr>
<tr>
<td><a target="_blank" data-section="Clinical Significance"
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
href="/clinvar/RCV000367838.4">RCV000367838.4</a>
</td>
<td>BRCA2-Related Disorders</td>
<td>Pathogenic</td>
</tr>
<tr>
<td><a target="_blank" data-section="Clinical Significance"
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
href="/clinvar/RCV000414179.2">RCV000414179.2</a>
</td>
<td>Breast neoplasm</td>
<td>Pathogenic</td>
</tr>
<tr>
<td><a target="_blank" data-section="Clinical Significance"
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
href="/clinvar/RCV000768632.2">RCV000768632.2</a>
</td>
<td>Breast and/or ovarian cancer</td>
<td>Pathogenic</td>
</tr>
<tr>
<td><a target="_blank" data-section="Clinical Significance"
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
href="/clinvar/RCV000785226.3">RCV000785226.3</a>
</td>
<td>Neoplasm of ovary</td>
<td>Pathogenic</td>
</tr>
<tr>
<td><a target="_blank" data-section="Clinical Significance"
data-ga-action="Click-on" data-ga-label="ClinVar_Accession_link"
ref="section=Clinical Significance&action=Click-on&label=ClinVar_Accession_link"
href="/clinvar/RCV001535431.2">RCV001535431.2</a>
</td>
<td>Fanconi anemia complementation group D1,Hereditary breast ovarian cancer syndrome</td>
<td>Not-Provided</td>
</tr>
</tbody>
</table>
</div>
</div>
<div id="hgvs_tab" class="js-tabcontent">
<a data-width="640px" href="#aliases_tp"
ref="section=HGVS&action=Click-on-Tooltip&label=aliases_tp"
data-section="HGVS" data-ga-action="Click-on-Tooltip" data-ga-label="aliases_tp"
class="fa fa-question-circle align-right ncbiPopper">
<span class="usa-sr-only">Help</span>
</a>
<p id="aliases_tp">
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. <a href="http://varnomen.hgvs.org/">HGVS name</a> is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".</p>
<div id="hgvs">
<table id="alliases_alleles_datatable" class="stripe">
<thead class="allele_wrap">
<tr>
<th>Placement</th>
<th>
T=
</th>
<th>
delT
</th>
</tr>
</thead>
<tbody class="allele_wrap">
<tr>
<td class="alias_hgvs">
GRCh38.p14 chr 13
</td>
<td class="alias_hgvs">
NC_000013.11:g.32340301=
</td>
<td class="alias_hgvs">
NC_000013.11:g.32340301del
</td>
</tr>
<tr>
<td class="alias_hgvs">
GRCh37.p13 chr 13
</td>
<td class="alias_hgvs">
NC_000013.10:g.32914438=
</td>
<td class="alias_hgvs">
NC_000013.10:g.32914438del
</td>
</tr>
<tr>
<td class="alias_hgvs">
BRCA2 RefSeqGene (LRG_293)
</td>
<td class="alias_hgvs">
NG_012772.3:g.29822=
</td>
<td class="alias_hgvs">
NG_012772.3:g.29822del
</td>
</tr>
<tr>
<td class="alias_hgvs">
BRCA2 transcript variant 1
</td>
<td class="alias_hgvs">
NM_000059.4:c.5946=
</td>
<td class="alias_hgvs">
NM_000059.4:c.5946del
</td>
</tr>
<tr>
<td class="alias_hgvs">
BRCA2 transcript
</td>
<td class="alias_hgvs">
NM_000059.3:c.5946=
</td>
<td class="alias_hgvs">
NM_000059.3:c.5946del
</td>
</tr>
<tr>
<td class="alias_hgvs">
BRCA2 transcript variant 6
</td>
<td class="alias_hgvs">
NR_176251.1:n.6145=
</td>
<td class="alias_hgvs">
NR_176251.1:n.6145del
</td>
</tr>
<tr>
<td class="alias_hgvs">
BRCA2 transcript variant 2
</td>
<td class="alias_hgvs">
NM_001406720.1:c.5946=
</td>
<td class="alias_hgvs">
NM_001406720.1:c.5946del
</td>
</tr>
<tr>
<td class="alias_hgvs">
BRCA2 transcript variant 3
</td>
<td class="alias_hgvs">
NM_001406719.1:c.5946=
</td>
<td class="alias_hgvs">
NM_001406719.1:c.5946del
</td>
</tr>
<tr>
<td class="alias_hgvs">
breast cancer type 2 susceptibility protein isoform 1
</td>
<td class="alias_hgvs">
NP_000050.3:p.Ser1982=
</td>
<td class="alias_hgvs">
NP_000050.3:p.Ser1982fs
</td>
</tr>
<tr>
<td class="alias_hgvs">
breast cancer type 2 susceptibility protein
</td>
<td class="alias_hgvs">
NP_000050.2:p.Ser1982=
</td>
<td class="alias_hgvs">
NP_000050.2:p.Ser1982fs
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div id="submissions" class="js-tabcontent">
<a data-width="640px" href="#submissions_tp"
ref="section=Submissions&action=Click-on-Tooltip&label=submissions_tp"
data-section="Submissions" data-ga-action="Click-on-Tooltip"
data-ga-label="submissions_tp" class="fa fa-question-circle align-right ncbiPopper">
<span class="usa-sr-only">Help</span>
</a>
<p id="submissions_tp">
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs).
We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time.
Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
</p>
<div class="sect_heading">
19 SubSNP,
7 Frequency,
12 ClinVar
submissions
</div>
<div id="submission">
<table id="submission_datatable" class="stripe">
<thead>
<tr>
<th>No</th>
<th>Submitter</th>
<th>Submission ID</th>
<th>Date (Build)</th>
</tr>
</thead>
<tbody>
<tr >
<td>1</td>
<td>
BIC_BRODY
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss204140078">ss204140078</a>
</td>
<td>Mar 10, 2010
(132)
</td>
</tr>
<tr >
<td>2</td>
<td>
EVA_EXAC
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1712035650">ss1712035650</a>
</td>
<td>Apr 01, 2015
(144)
</td>
</tr>
<tr >
<td>3</td>
<td>
ILLUMINA
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1946358040">ss1946358040</a>
</td>
<td>Feb 12, 2016
(147)
</td>
</tr>
<tr >
<td>4</td>
<td>
ILLUMINA
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss1959492045">ss1959492045</a>
</td>
<td>Feb 12, 2016
(147)
</td>
</tr>
<tr >
<td>5</td>
<td>
GNOMAD
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss2749029655">ss2749029655</a>
</td>
<td>Nov 08, 2017
(151)
</td>
</tr>
<tr >
<td>6</td>
<td>
GNOMAD
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss2918246824">ss2918246824</a>
</td>
<td>Nov 08, 2017
(151)
</td>
</tr>
<tr >
<td>7</td>
<td>
AFFY
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss2985000816">ss2985000816</a>
</td>
<td>Nov 08, 2017
(151)
</td>
</tr>
<tr >
<td>8</td>
<td>
ILLUMINA
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3021497269">ss3021497269</a>
</td>
<td>Nov 08, 2017
(151)
</td>
</tr>
<tr >
<td>9</td>
<td>
ILLUMINA
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3021497271">ss3021497271</a>
</td>
<td>Nov 08, 2017
(151)
</td>
</tr>
<tr >
<td>10</td>
<td>
ILLUMINA
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3625641136">ss3625641136</a>
</td>
<td>Oct 12, 2018
(152)
</td>
</tr>
<tr >
<td>11</td>
<td>
ILLUMINA
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3644611073">ss3644611073</a>
</td>
<td>Oct 12, 2018
(152)
</td>
</tr>
<tr >
<td>12</td>
<td>
ILLUMINA
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3651882796">ss3651882796</a>
</td>
<td>Oct 12, 2018
(152)
</td>
</tr>
<tr >
<td>13</td>
<td>
ILLUMINA
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3651882798">ss3651882798</a>
</td>
<td>Oct 12, 2018
(152)
</td>
</tr>
<tr >
<td>14</td>
<td>
ILLUMINA
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3653771330">ss3653771330</a>
</td>
<td>Oct 12, 2018
(152)
</td>
</tr>
<tr >
<td>15</td>
<td>
ILLUMINA
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3725384106">ss3725384106</a>
</td>
<td>Jul 13, 2019
(153)
</td>
</tr>
<tr >
<td>16</td>
<td>
ILLUMINA
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3744109783">ss3744109783</a>
</td>
<td>Jul 13, 2019
(153)
</td>
</tr>
<tr >
<td>17</td>
<td>
PAGE_CC
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3771738667">ss3771738667</a>
</td>
<td>Jul 13, 2019
(153)
</td>
</tr>
<tr >
<td>18</td>
<td>
EVA
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss3824801757">ss3824801757</a>
</td>
<td>Apr 27, 2020
(154)
</td>
</tr>
<tr >
<td>19</td>
<td>
TOPMED
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/projects/SNP/snp_ss.cgi?subsnp_id=ss4941932414">ss4941932414</a>
</td>
<td>Apr 27, 2021
(155)
</td>
</tr>
<tr >
<td>20</td>
<td>
ExAC
</td>
<td>
NC_000013.10 - 32914438
</td>
<td>Oct 12, 2018
(152)
</td>
</tr>
<tr >
<td>21</td>
<td>
gnomAD - Genomes
</td>
<td>
NC_000013.11 - 32340301
</td>
<td>Apr 27, 2021
(155)
</td>
</tr>
<tr >
<td>22</td>
<td>
gnomAD - Exomes
</td>
<td>
NC_000013.10 - 32914438
</td>
<td>Jul 13, 2019
(153)
</td>
</tr>
<tr >
<td>23</td>
<td>
GO Exome Sequencing Project
</td>
<td>
NC_000013.10 - 32914438
</td>
<td>Oct 12, 2018
(152)
</td>
</tr>
<tr >
<td>24</td>
<td>
The PAGE Study
</td>
<td>
NC_000013.11 - 32340301
</td>
<td>Jul 13, 2019
(153)
</td>
</tr>
<tr >
<td>25</td>
<td>
TopMed
</td>
<td>
NC_000013.11 - 32340301
</td>
<td>Apr 27, 2021
(155)
</td>
</tr>
<tr >
<td>26</td>
<td>
ALFA
</td>
<td>
NC_000013.11 - 32340301
</td>
<td>Apr 27, 2021
(155)
</td>
</tr>
<tr >
<td>27</td>
<td>
ClinVar
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/clinvar/RCV000009910.26/">RCV000009910.26</a>
</td>
<td>Oct 16, 2022
(156)
</td>
</tr>
<tr >
<td>28</td>
<td>
ClinVar
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/clinvar/RCV000009911.6/">RCV000009911.6</a>
</td>
<td>Oct 16, 2022
(156)
</td>
</tr>
<tr >
<td>29</td>
<td>
ClinVar
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/clinvar/RCV000009912.6/">RCV000009912.6</a>
</td>
<td>Oct 16, 2022
(156)
</td>
</tr>
<tr >
<td>30</td>
<td>
ClinVar
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/clinvar/RCV000034451.29/">RCV000034451.29</a>
</td>
<td>Oct 16, 2022
(156)
</td>
</tr>
<tr >
<td>31</td>
<td>
ClinVar
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/clinvar/RCV000044800.12/">RCV000044800.12</a>
</td>
<td>Oct 16, 2022
(156)
</td>
</tr>
<tr >
<td>32</td>
<td>
ClinVar
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/clinvar/RCV000129627.11/">RCV000129627.11</a>
</td>
<td>Oct 16, 2022
(156)
</td>
</tr>
<tr >
<td>33</td>
<td>
ClinVar
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/clinvar/RCV000212245.29/">RCV000212245.29</a>
</td>
<td>Oct 16, 2022
(156)
</td>
</tr>
<tr >
<td>34</td>
<td>
ClinVar
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/clinvar/RCV000367838.4/">RCV000367838.4</a>
</td>
<td>Oct 16, 2022
(156)
</td>
</tr>
<tr >
<td>35</td>
<td>
ClinVar
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/clinvar/RCV000414179.2/">RCV000414179.2</a>
</td>
<td>Oct 16, 2022
(156)
</td>
</tr>
<tr >
<td>36</td>
<td>
ClinVar
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/clinvar/RCV000768632.2/">RCV000768632.2</a>
</td>
<td>Oct 16, 2022
(156)
</td>
</tr>
<tr >
<td>37</td>
<td>
ClinVar
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/clinvar/RCV000785226.3/">RCV000785226.3</a>
</td>
<td>Oct 16, 2022
(156)
</td>
</tr>
<tr >
<td>38</td>
<td>
ClinVar
</td>
<td>
<a target="_blank" data-section="Submissions"
data-ga-action="Click-on" data-ga-label="Submission_ID_link"
ref="section=Submissions&action=Click-on&label=Submission_ID_link"
href="/clinvar/RCV001535431.2/">RCV001535431.2</a>
</td>
<td>Oct 16, 2022
(156)
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div id="history" class="js-tabcontent">
<a data-width="640px" href="#history_tp"
ref="section=History&action=Click-on-Tooltip&label=history_tp"
data-section="History" data-ga-action="Click-on-Tooltip" data-ga-label="history_tp"
class="fa fa-question-circle align-right ncbiPopper">
<span class="usa-sr-only">Help</span>
</a>
<p id="history_tp">
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).</p>
<div id="obs_present">
<span>Added to this RefSNP Cluster:</span>
<table id="obs_present_table" class="observation_table stripe">
<thead>
<tr>
<th>Submission IDs</th>
<th>Observation <a href="/variation/notation/">SPDI</a></th>
<th>Canonical <a href="/variation/notation/">SPDI</a></th>
<th>Source RSIDs</th>
</tr>
</thead>
<tbody>
<tr>
<td>
1577189,
9596787,
1259144,
ss1712035650,
ss1946358040,
ss1959492045,
ss2749029655,
ss2918246824,
ss2985000816,
ss3021497269,
ss3021497271,
ss3625641136,
ss3644611073,
ss3651882796,
ss3651882798,
ss3653771330,
ss3744109783,
ss3824801757
</td>
<td>
NC_000013.10:32914437:T:
</td>
<td>
NC_000013.11:32340300:T:
</td>
<td>
(self)
</td>
</tr>
<tr>
<td>
RCV000009910.26,
RCV000009911.6,
RCV000009912.6,
RCV000034451.29,
RCV000044800.12,
RCV000129627.11,
RCV000212245.29,
RCV000367838.4,
RCV000414179.2,
RCV000768632.2,
RCV000785226.3,
RCV001535431.2,
427156192,
960136,
157478072,
5367977204,
ss204140078,
ss3725384106,
ss3771738667,
ss4941932414
</td>
<td>
NC_000013.11:32340300:T:
</td>
<td>
NC_000013.11:32340300:T:
</td>
<td>
(self)
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div id="publications" class="js-tabcontent">
<a data-width="640px" href="#publications_tp"
ref="section=Publications&action=Click-on-Tooltip&label=publications_tp"
data-section="Publications" data-ga-action="Click-on-Tooltip"
data-ga-label="publications_tp" class="fa fa-question-circle align-right ncbiPopper">
<span class="usa-sr-only">Help</span>
</a>
<p id="publications_tp">
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.</p>
<div class="sect_heading">
39
citations for rs80359550
</div>
<div id="publication">
<table id="publication_datatable" class="stripe">
<thead>
<tr>
<th>PMID</th>
<th class="fir_col">Title</th>
<th>Author</th>
<th>Year</th>
<th>Journal</th>
</tr>
</thead>
<tbody>
<tr>
<td><a target="_blank" href="/pubmed/8075631"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">8075631</a>
</td>
<td class="fir_col">Familial male breast cancer is not linked to the BRCA1 locus on chromosome 17q.</td>
<td>Stratton MR et al.</td>
<td>1994</td>
<td>Nature genetics</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/8524414"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">8524414</a>
</td>
<td class="fir_col">Identification of the breast cancer susceptibility gene BRCA2.</td>
<td>Wooster R et al.</td>
<td>1995</td>
<td>Nature</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/8673091"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">8673091</a>
</td>
<td class="fir_col">BRCA2 germline mutations in male breast cancer cases and breast cancer families.</td>
<td>Couch FJ et al.</td>
<td>1996</td>
<td>Nature genetics</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/8673092"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">8673092</a>
</td>
<td class="fir_col">Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer.</td>
<td>Neuhausen S et al.</td>
<td>1996</td>
<td>Nature genetics</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/8841191"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">8841191</a>
</td>
<td class="fir_col">Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2.</td>
<td>Roa BB et al.</td>
<td>1996</td>
<td>Nature genetics</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/8841192"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">8841192</a>
</td>
<td class="fir_col">The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%.</td>
<td>Oddoux C et al.</td>
<td>1996</td>
<td>Nature genetics</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/9145676"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">9145676</a>
</td>
<td class="fir_col">The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews.</td>
<td>Struewing JP et al.</td>
<td>1997</td>
<td>The New England journal of medicine</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/10570174"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">10570174</a>
</td>
<td class="fir_col">Truncated BRCA2 is cytoplasmic: implications for cancer-linked mutations.</td>
<td>Spain BH et al.</td>
<td>1999</td>
<td>Proceedings of the National Academy of Sciences of the United States of America</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/12473589"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">12473589</a>
</td>
<td class="fir_col">Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations.</td>
<td>Satagopan JM et al.</td>
<td>2002</td>
<td>Clinical cancer research </td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/14559878"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">14559878</a>
</td>
<td class="fir_col">Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.</td>
<td>Offit K et al.</td>
<td>2003</td>
<td>Journal of the National Cancer Institute</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/14576434"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">14576434</a>
</td>
<td class="fir_col">Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2.</td>
<td>King MC et al.</td>
<td>2003</td>
<td>Science (New York, N.Y.)</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/15695382"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">15695382</a>
</td>
<td class="fir_col">Functional evaluation and cancer risk assessment of BRCA2 unclassified variants.</td>
<td>Wu K et al.</td>
<td>2005</td>
<td>Cancer research</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/15994883"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">15994883</a>
</td>
<td class="fir_col">Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies.</td>
<td>Antoniou AC et al.</td>
<td>2005</td>
<td>Journal of medical genetics</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/16168118"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">16168118</a>
</td>
<td class="fir_col">High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.</td>
<td>Pohlreich P et al.</td>
<td>2005</td>
<td>Breast cancer research </td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/16825431"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">16825431</a>
</td>
<td class="fir_col">Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.</td>
<td>Alter BP et al.</td>
<td>2007</td>
<td>Journal of medical genetics</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/17591843"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">17591843</a>
</td>
<td class="fir_col">Founder mutations in BRCA1 and BRCA2 genes.</td>
<td>Ferla R et al.</td>
<td>2007</td>
<td>Annals of oncology </td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/18607349"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">18607349</a>
</td>
<td class="fir_col">Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2.</td>
<td>Kuznetsov SG et al.</td>
<td>2008</td>
<td>Nature medicine</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/19188187"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">19188187</a>
</td>
<td class="fir_col">Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations.</td>
<td>Agalliu I et al.</td>
<td>2009</td>
<td>Clinical cancer research </td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/20104584"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">20104584</a>
</td>
<td class="fir_col">Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.</td>
<td>Borg A et al.</td>
<td>2010</td>
<td>Human mutation</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/20216074"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">20216074</a>
</td>
<td class="fir_col">Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2.</td>
<td>Petrucelli N et al.</td>
<td>2010</td>
<td>Genetics in medicine </td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/20301425"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">20301425</a>
</td>
<td class="fir_col">BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer.</td>
<td>Petrucelli N et al.</td>
<td>1993</td>
<td>GeneReviews(®)</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/20736950"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">20736950</a>
</td>
<td class="fir_col">Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis.</td>
<td>Edwards SM et al.</td>
<td>2010</td>
<td>British journal of cancer</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/20887823"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">20887823</a>
</td>
<td class="fir_col">Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation.</td>
<td>Veerapandiyan A et al.</td>
<td>2011</td>
<td>European journal of medical genetics</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/21324516"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">21324516</a>
</td>
<td class="fir_col">Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.</td>
<td>Zhang S et al.</td>
<td>2011</td>
<td>Gynecologic oncology</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/22006311"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">22006311</a>
</td>
<td class="fir_col">Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.</td>
<td>Walsh T et al.</td>
<td>2011</td>
<td>Proceedings of the National Academy of Sciences of the United States of America</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/22009639"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">22009639</a>
</td>
<td class="fir_col">Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.</td>
<td>Bayraktar S et al.</td>
<td>2012</td>
<td>Cancer</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/22430266"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">22430266</a>
</td>
<td class="fir_col">Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.</td>
<td>Finkelman BS et al.</td>
<td>2012</td>
<td>Journal of clinical oncology </td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/22703879"
ref="section=Publications&action=Click-on&label=PMID_link"
data-section="Publications" data-ga-action="Click-on"
data-ga-label="PMID_link">22703879</a>
</td>
<td class="fir_col">Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.</td>
<td>Johnston JJ et al.</td>
<td>2012</td>
<td>American journal of human genetics</td>
</tr>
<tr>
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<td class="fir_col">Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.</td>
<td>Janavičius R et al.</td>
<td>2010</td>
<td>The EPMA journal</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/23469205"
ref="section=Publications&action=Click-on&label=PMID_link"
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<td class="fir_col">Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil.</td>
<td>Carraro DM et al.</td>
<td>2013</td>
<td>PloS one</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/23658460"
ref="section=Publications&action=Click-on&label=PMID_link"
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<td class="fir_col">High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions.</td>
<td>Lucas AL et al.</td>
<td>2013</td>
<td>Clinical cancer research </td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/24884479"
ref="section=Publications&action=Click-on&label=PMID_link"
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<td class="fir_col">Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.</td>
<td>Silva FC et al.</td>
<td>2014</td>
<td>BMC medical genetics</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/25452441"
ref="section=Publications&action=Click-on&label=PMID_link"
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<td class="fir_col">Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.</td>
<td>Couch FJ et al.</td>
<td>2015</td>
<td>Journal of clinical oncology </td>
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<td class="fir_col">Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.</td>
<td>Richards S et al.</td>
<td>2015</td>
<td>Genetics in medicine </td>
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<td><a target="_blank" href="/pubmed/26180923"
ref="section=Publications&action=Click-on&label=PMID_link"
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<td class="fir_col">BRCA1 and BRCA2 mutations sensitize to chemotherapy in patient-derived pancreatic cancer xenografts.</td>
<td>Lohse I et al.</td>
<td>2015</td>
<td>British journal of cancer</td>
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<td><a target="_blank" href="/pubmed/26295337"
ref="section=Publications&action=Click-on&label=PMID_link"
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<td class="fir_col">Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.</td>
<td>Strom CM et al.</td>
<td>2015</td>
<td>PloS one</td>
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<td><a target="_blank" href="/pubmed/26467025"
ref="section=Publications&action=Click-on&label=PMID_link"
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<td class="fir_col">A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.</td>
<td>Karbassi I et al.</td>
<td>2016</td>
<td>Human mutation</td>
</tr>
<tr>
<td><a target="_blank" href="/pubmed/26893716"
ref="section=Publications&action=Click-on&label=PMID_link"
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<td class="fir_col">Polymorphic variants in the vitamin D pathway genes and the risk of ovarian cancer among non-carriers of BRCA1/BRCA2 mutations.</td>
<td>Mostowska A et al.</td>
<td>2016</td>
<td>Oncology letters</td>
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<td class="fir_col">Effects of Combined Treatment with Ionizing Radiation and the PARP Inhibitor Olaparib in BRCA Mutant and Wild Type Patient-Derived Pancreatic Cancer Xenografts.</td>
<td>Lohse I et al.</td>
<td>2016</td>
<td>PloS one</td>
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).<br/>
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