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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs80359550

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:32340301 (GRCh38.p14) Help

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 here for details.

Alleles
delT
Variation Type
Deletion
Frequency
delT=0.000110 (29/264690, TOPMED)
delT=0.000291 (73/250700, GnomAD_exome)
delT=0.000185 (26/140208, GnomAD) (+ 4 more)
delT=0.000265 (32/120698, ExAC)
delT=0.00000 (0/78698, PAGE_STUDY)
delT=0.00074 (17/23038, ALFA)
delT=0.00016 (2/12514, GO-ESP)
Clinical Significance
Reported in ClinVar
Gene : Consequence
BRCA2 : Frameshift Variant
Publications
39 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 23038 T=0.99926 =0.00074 0.998524 0.0 0.001476 0
European Sub 15752 T=0.99937 =0.00063 0.99873 0.0 0.00127 0
African Sub 3492 T=0.9997 =0.0003 0.999427 0.0 0.000573 0
African Others Sub 122 T=1.000 =0.000 1.0 0.0 0.0 N/A
African American Sub 3370 T=0.9997 =0.0003 0.999407 0.0 0.000593 0
Asian Sub 168 T=1.000 =0.000 1.0 0.0 0.0 N/A
East Asian Sub 112 T=1.000 =0.000 1.0 0.0 0.0 N/A
Other Asian Sub 56 T=1.00 =0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 T=1.000 =0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 T=1.000 =0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 T=1.00 =0.00 1.0 0.0 0.0 N/A
Other Sub 2772 T=0.9978 =0.0022 0.995671 0.0 0.004329 0


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.999890 delT=0.000110
gnomAD - Exomes Global Study-wide 250700 T=0.999709 delT=0.000291
gnomAD - Exomes European Sub 135118 T=0.999919 delT=0.000081
gnomAD - Exomes Asian Sub 49002 T=1.00000 delT=0.00000
gnomAD - Exomes American Sub 34592 T=1.00000 delT=0.00000
gnomAD - Exomes African Sub 15820 T=1.00000 delT=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10074 T=0.99414 delT=0.00586
gnomAD - Exomes Other Sub 6094 T=0.9995 delT=0.0005
gnomAD - Genomes Global Study-wide 140208 T=0.999815 delT=0.000185
gnomAD - Genomes European Sub 75926 T=0.99992 delT=0.00008
gnomAD - Genomes African Sub 42032 T=1.00000 delT=0.00000
gnomAD - Genomes American Sub 13654 T=1.00000 delT=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=0.9940 delT=0.0060
gnomAD - Genomes East Asian Sub 3126 T=1.0000 delT=0.0000
gnomAD - Genomes Other Sub 2152 T=1.0000 delT=0.0000
ExAC Global Study-wide 120698 T=0.999735 delT=0.000265
ExAC Europe Sub 73152 T=0.99956 delT=0.00044
ExAC Asian Sub 25160 T=1.00000 delT=0.00000
ExAC American Sub 11576 T=1.00000 delT=0.00000
ExAC African Sub 9908 T=1.0000 delT=0.0000
ExAC Other Sub 902 T=1.000 delT=0.000
The PAGE Study Global Study-wide 78698 T=1.00000 delT=0.00000
The PAGE Study AfricanAmerican Sub 32516 T=1.00000 delT=0.00000
The PAGE Study Mexican Sub 10808 T=1.00000 delT=0.00000
The PAGE Study Asian Sub 8316 T=1.0000 delT=0.0000
The PAGE Study PuertoRican Sub 7918 T=1.0000 delT=0.0000
The PAGE Study NativeHawaiian Sub 4534 T=1.0000 delT=0.0000
The PAGE Study Cuban Sub 4230 T=1.0000 delT=0.0000
The PAGE Study Dominican Sub 3828 T=1.0000 delT=0.0000
The PAGE Study CentralAmerican Sub 2450 T=1.0000 delT=0.0000
The PAGE Study SouthAmerican Sub 1982 T=1.0000 delT=0.0000
The PAGE Study NativeAmerican Sub 1260 T=1.0000 delT=0.0000
The PAGE Study SouthAsian Sub 856 T=1.000 delT=0.000
Allele Frequency Aggregator Total Global 23038 T=0.99926 delT=0.00074
Allele Frequency Aggregator European Sub 15752 T=0.99937 delT=0.00063
Allele Frequency Aggregator African Sub 3492 T=0.9997 delT=0.0003
Allele Frequency Aggregator Other Sub 2772 T=0.9978 delT=0.0022
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 delT=0.000
Allele Frequency Aggregator Asian Sub 168 T=1.000 delT=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 delT=0.000
Allele Frequency Aggregator South Asian Sub 98 T=1.00 delT=0.00
GO Exome Sequencing Project Global Study-wide 12514 T=0.99984 delT=0.00016
GO Exome Sequencing Project European American Sub 8252 T=0.9998 delT=0.0002
GO Exome Sequencing Project African American Sub 4262 T=1.0000 delT=0.0000
Help

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 molecular consequences from Sequence Ontology. 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 > 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.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 13 NC_000013.11:g.32340301del
GRCh37.p13 chr 13 NC_000013.10:g.32914438del
BRCA2 RefSeqGene (LRG_293) NG_012772.3:g.29822del
Gene: BRCA2, BRCA2 DNA repair associated (plus strand)
Molecule type Change Amino acid[Codon] SO Term
BRCA2 transcript variant 1 NM_000059.4:c.5946del S [AGT] > R [AG] Coding Sequence Variant
breast cancer type 2 susceptibility protein isoform 1 NP_000050.3:p.Ser1982fs S (Ser) > R (Arg) Frameshift Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: delT (allele ID: 24364 )
ClinVar Accession Disease Names Clinical Significance
RCV000009910.26 Breast-ovarian cancer, familial, susceptibility to, 2 Pathogenic
RCV000009911.6 Pancreatic cancer, susceptibility to, 2 Risk-Factor
RCV000009912.6 Fanconi anemia complementation group D1 Pathogenic
RCV000034451.29 Hereditary breast ovarian cancer syndrome Pathogenic
RCV000044800.12 Familial cancer of breast Pathogenic
RCV000129627.11 Hereditary cancer-predisposing syndrome Pathogenic
RCV000212245.29 not provided Pathogenic
RCV000367838.4 BRCA2-Related Disorders Pathogenic
RCV000414179.2 Breast neoplasm Pathogenic
RCV000768632.2 Breast and/or ovarian cancer Pathogenic
RCV000785226.3 Neoplasm of ovary Pathogenic
RCV001535431.2 Fanconi anemia complementation group D1,Hereditary breast ovarian cancer syndrome Not-Provided
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name 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".

Placement T= delT
GRCh38.p14 chr 13 NC_000013.11:g.32340301= NC_000013.11:g.32340301del
GRCh37.p13 chr 13 NC_000013.10:g.32914438= NC_000013.10:g.32914438del
BRCA2 RefSeqGene (LRG_293) NG_012772.3:g.29822= NG_012772.3:g.29822del
BRCA2 transcript variant 1 NM_000059.4:c.5946= NM_000059.4:c.5946del
BRCA2 transcript NM_000059.3:c.5946= NM_000059.3:c.5946del
BRCA2 transcript variant 6 NR_176251.1:n.6145= NR_176251.1:n.6145del
BRCA2 transcript variant 2 NM_001406720.1:c.5946= NM_001406720.1:c.5946del
BRCA2 transcript variant 3 NM_001406719.1:c.5946= NM_001406719.1:c.5946del
breast cancer type 2 susceptibility protein isoform 1 NP_000050.3:p.Ser1982= NP_000050.3:p.Ser1982fs
breast cancer type 2 susceptibility protein NP_000050.2:p.Ser1982= NP_000050.2:p.Ser1982fs
Help

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#.

19 SubSNP, 7 Frequency, 12 ClinVar submissions
No Submitter Submission ID Date (Build)
1 BIC_BRODY ss204140078 Mar 10, 2010 (132)
2 EVA_EXAC ss1712035650 Apr 01, 2015 (144)
3 ILLUMINA ss1946358040 Feb 12, 2016 (147)
4 ILLUMINA ss1959492045 Feb 12, 2016 (147)
5 GNOMAD ss2749029655 Nov 08, 2017 (151)
6 GNOMAD ss2918246824 Nov 08, 2017 (151)
7 AFFY ss2985000816 Nov 08, 2017 (151)
8 ILLUMINA ss3021497269 Nov 08, 2017 (151)
9 ILLUMINA ss3021497271 Nov 08, 2017 (151)
10 ILLUMINA ss3625641136 Oct 12, 2018 (152)
11 ILLUMINA ss3644611073 Oct 12, 2018 (152)
12 ILLUMINA ss3651882796 Oct 12, 2018 (152)
13 ILLUMINA ss3651882798 Oct 12, 2018 (152)
14 ILLUMINA ss3653771330 Oct 12, 2018 (152)
15 ILLUMINA ss3725384106 Jul 13, 2019 (153)
16 ILLUMINA ss3744109783 Jul 13, 2019 (153)
17 PAGE_CC ss3771738667 Jul 13, 2019 (153)
18 EVA ss3824801757 Apr 27, 2020 (154)
19 TOPMED ss4941932414 Apr 27, 2021 (155)
20 ExAC NC_000013.10 - 32914438 Oct 12, 2018 (152)
21 gnomAD - Genomes NC_000013.11 - 32340301 Apr 27, 2021 (155)
22 gnomAD - Exomes NC_000013.10 - 32914438 Jul 13, 2019 (153)
23 GO Exome Sequencing Project NC_000013.10 - 32914438 Oct 12, 2018 (152)
24 The PAGE Study NC_000013.11 - 32340301 Jul 13, 2019 (153)
25 TopMed NC_000013.11 - 32340301 Apr 27, 2021 (155)
26 ALFA NC_000013.11 - 32340301 Apr 27, 2021 (155)
27 ClinVar RCV000009910.26 Oct 16, 2022 (156)
28 ClinVar RCV000009911.6 Oct 16, 2022 (156)
29 ClinVar RCV000009912.6 Oct 16, 2022 (156)
30 ClinVar RCV000034451.29 Oct 16, 2022 (156)
31 ClinVar RCV000044800.12 Oct 16, 2022 (156)
32 ClinVar RCV000129627.11 Oct 16, 2022 (156)
33 ClinVar RCV000212245.29 Oct 16, 2022 (156)
34 ClinVar RCV000367838.4 Oct 16, 2022 (156)
35 ClinVar RCV000414179.2 Oct 16, 2022 (156)
36 ClinVar RCV000768632.2 Oct 16, 2022 (156)
37 ClinVar RCV000785226.3 Oct 16, 2022 (156)
38 ClinVar RCV001535431.2 Oct 16, 2022 (156)
Help

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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
1577189, 9596787, 1259144, ss1712035650, ss1946358040, ss1959492045, ss2749029655, ss2918246824, ss2985000816, ss3021497269, ss3021497271, ss3625641136, ss3644611073, ss3651882796, ss3651882798, ss3653771330, ss3744109783, ss3824801757 NC_000013.10:32914437:T: NC_000013.11:32340300:T: (self)
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 NC_000013.11:32340300:T: NC_000013.11:32340300:T: (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

39 citations for rs80359550
PMID Title Author Year Journal
8075631 Familial male breast cancer is not linked to the BRCA1 locus on chromosome 17q. Stratton MR et al. 1994 Nature genetics
8524414 Identification of the breast cancer susceptibility gene BRCA2. Wooster R et al. 1995 Nature
8673091 BRCA2 germline mutations in male breast cancer cases and breast cancer families. Couch FJ et al. 1996 Nature genetics
8673092 Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Neuhausen S et al. 1996 Nature genetics
8841191 Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Roa BB et al. 1996 Nature genetics
8841192 The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Oddoux C et al. 1996 Nature genetics
9145676 The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. Struewing JP et al. 1997 The New England journal of medicine
10570174 Truncated BRCA2 is cytoplasmic: implications for cancer-linked mutations. Spain BH et al. 1999 Proceedings of the National Academy of Sciences of the United States of America
12473589 Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. Satagopan JM et al. 2002 Clinical cancer research
14559878 Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. Offit K et al. 2003 Journal of the National Cancer Institute
14576434 Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. King MC et al. 2003 Science (New York, N.Y.)
15695382 Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. Wu K et al. 2005 Cancer research
15994883 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. Antoniou AC et al. 2005 Journal of medical genetics
16168118 High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area. Pohlreich P et al. 2005 Breast cancer research
16825431 Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. Alter BP et al. 2007 Journal of medical genetics
17591843 Founder mutations in BRCA1 and BRCA2 genes. Ferla R et al. 2007 Annals of oncology
18607349 Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2. Kuznetsov SG et al. 2008 Nature medicine
19188187 Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations. Agalliu I et al. 2009 Clinical cancer research
20104584 Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. Borg A et al. 2010 Human mutation
20216074 Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2. Petrucelli N et al. 2010 Genetics in medicine
20301425 BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. Petrucelli N et al. 1993 GeneReviews(®)
20736950 Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis. Edwards SM et al. 2010 British journal of cancer
20887823 Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation. Veerapandiyan A et al. 2011 European journal of medical genetics
21324516 Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. Zhang S et al. 2011 Gynecologic oncology
22006311 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Walsh T et al. 2011 Proceedings of the National Academy of Sciences of the United States of America
22009639 Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ. Bayraktar S et al. 2012 Cancer
22430266 Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers. Finkelman BS et al. 2012 Journal of clinical oncology
22703879 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Johnston JJ et al. 2012 American journal of human genetics
23199084 Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. Janavičius R et al. 2010 The EPMA journal
23469205 Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil. Carraro DM et al. 2013 PloS one
23658460 High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions. Lucas AL et al. 2013 Clinical cancer research
24884479 Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. Silva FC et al. 2014 BMC medical genetics
25452441 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. Couch FJ et al. 2015 Journal of clinical oncology
25741868 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. Richards S et al. 2015 Genetics in medicine
26180923 BRCA1 and BRCA2 mutations sensitize to chemotherapy in patient-derived pancreatic cancer xenografts. Lohse I et al. 2015 British journal of cancer
26295337 Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory. Strom CM et al. 2015 PloS one
26467025 A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders. Karbassi I et al. 2016 Human mutation
26893716 Polymorphic variants in the vitamin D pathway genes and the risk of ovarian cancer among non-carriers of BRCA1/BRCA2 mutations. Mostowska A et al. 2016 Oncology letters
28033382 Effects of Combined Treatment with Ionizing Radiation and the PARP Inhibitor Olaparib in BRCA Mutant and Wild Type Patient-Derived Pancreatic Cancer Xenografts. Lohse I et al. 2016 PloS one
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post825+45319f0