ClinVar Genomic variation as it relates to human health
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance(8); Benign(2); Likely benign(4)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)
Variation ID: 52347 Accession: VCV000052347.43
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 13q13.1 13: 32356514 (GRCh38) [ NCBI UCSC ] 13: 32930651 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 Aug 11, 2024 Mar 20, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000059.4:c.7522G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000050.3:p.Gly2508Ser missense NC_000013.11:g.32356514G>A NC_000013.10:g.32930651G>A NG_012772.3:g.46035G>A LRG_293:g.46035G>A LRG_293t1:c.7522G>A LRG_293p1:p.Gly2508Ser U43746.1:n.7750G>A - Protein change
- G2508S
- Other names
- p.G2508S:GGC>AGC
- 7750G>A
- Canonical SPDI
- NC_000013.11:32356513:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Exome Aggregation Consortium (ExAC) 0.00011
The Genome Aggregation Database (gnomAD), exomes 0.00016
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
18955 | 19114 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Benign (3) |
criteria provided, single submitter
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May 28, 2019 | RCV000077404.7 | |
Conflicting interpretations of pathogenicity (5) |
criteria provided, conflicting classifications
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Jun 20, 2022 | RCV000120359.21 | |
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
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Mar 20, 2024 | RCV000164682.15 | |
Likely benign (1) |
criteria provided, single submitter
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Aug 16, 2023 | RCV000203651.20 | |
Uncertain significance (1) |
criteria provided, single submitter
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Nov 1, 2015 | RCV000240741.2 | |
Uncertain significance (1) |
criteria provided, single submitter
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Jul 21, 2017 | RCV000677860.2 | |
Uncertain significance (2) |
criteria provided, single submitter
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Jul 21, 2017 | RCV000677861.6 | |
Uncertain significance (1) |
criteria provided, single submitter
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Jul 21, 2017 | RCV000677862.2 | |
Benign (1) |
criteria provided, single submitter
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Feb 1, 2024 | RCV001084266.7 | |
Uncertain significance (1) |
no assertion criteria provided
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- | RCV001353972.3 | |
Uncertain significance (1) |
no assertion criteria provided
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- | RCV002250521.2 | |
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Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Benign
(May 28, 2019)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: unknown
Allele origin:
unknown
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Mendelics
Accession: SCV001139184.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
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Uncertain significance
(Dec 05, 2021)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Sema4, Sema4
Accession: SCV002531868.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Comment:
The BRCA2 c.7522G>A (p.G2508S) variant has been reported in several individuals with breast and/or ovarian cancer, thyroid cancer, prostate cancer, and esophageal squamous cell carcinoma … (more)
The BRCA2 c.7522G>A (p.G2508S) variant has been reported in several individuals with breast and/or ovarian cancer, thyroid cancer, prostate cancer, and esophageal squamous cell carcinoma (PMID: 19499246, 14973102, 26221963, 22126563, 27658390, 26402875, 28111427, 27701467). However, it was also reported in controls (PMID: 14973102, 24728327, 27157322). Case-control studies have reported the variant to be significantly associated with breast cancer with an OR range of 1.3-16.5 in Asian individuals (PMID: 24470074, 28283652, 28419251) while other studies did not find any significant difference between cases and controls (PMID 30415210, 33471991). In silico tools suggest the impact of the variant on protein function is deleterious and functional studies demonstrated similar to normal or partially decreased protein function (PMID: 28283652, 32444794, 29988080, 29394989). It was observed in 45/19952 chromosomes of the East Asian subpopulation in the large and broad cohorts of the Genome Aggregation Database (http://gnomad.broadinstitute.org, PMID: 32461654). The variant has been reported in ClinVar (Variation ID 52347). The evidence is insufficient to meet ACMG/AMP criteria for classifying the variant as benign or pathogenic. Thus, the clinical significance of this variant is currently uncertain. (less)
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Benign
(Feb 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000073249.12
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
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Uncertain significance
(Dec 06, 2016)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000602837.1
First in ClinVar: Sep 28, 2017 Last updated: Sep 28, 2017 |
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Likely benign
(Dec 07, 2017)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000210654.6
First in ClinVar: Feb 24, 2015 Last updated: Apr 09, 2018 |
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. (less)
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Likely benign
(Nov 13, 2016)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000910752.1
First in ClinVar: May 20, 2019 Last updated: May 20, 2019 |
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Uncertain significance
(Nov 08, 2018)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: no
Allele origin:
germline
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Genetic Services Laboratory, University of Chicago
Accession: SCV002067635.1
First in ClinVar: Jan 29, 2022 Last updated: Jan 29, 2022 |
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Likely benign
(Jun 20, 2022)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000695074.4
First in ClinVar: Mar 17, 2018 Last updated: Aug 03, 2022 |
Comment:
Variant summary: BRCA2 c.7522G>A (p.Gly2508Ser) results in a non-conservative amino acid change located in the helical domain (IPR015252) of the encoded protein sequence. Five of … (more)
Variant summary: BRCA2 c.7522G>A (p.Gly2508Ser) results in a non-conservative amino acid change located in the helical domain (IPR015252) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0002 in 310330 control chromosomes, predominantly at a frequency of 0.0023 within the East Asian subpopulation in the gnomAD database. The observed variant frequency within East Asian control individuals in the gnomAD database is approximately 3-fold of the estimated maximal expected allele frequency for a pathogenic variant in BRCA2 causing Hereditary Breast and Ovarian Cancer Syndrome (HBOC) phenotype (0.00075), strongly suggesting that the variant is a benign polymorphism found primarily in populations of East Asian origin. The variant, c.7522G>A, has been reported in the literature in numerous individuals affected with tumors that belong to the HBOC spectrum, however it was also found in several healthy controls. These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer Syndrome. Co-occurrences with other pathogenic variants have been reported (BRCA2 c.8340_8343delTAAC (p.Asn2781ValfsX39) in the BIC database and BRCA1 c.3627dupA (p.Glu1210Argfs) in Lim_2009), providing supporting evidence for a benign role. A large case-control study involving breast cancer patients and controls of Asian ancestry (Han_2017), found an enrichment of this variant in cases (OR: 3.02 (95%CI: 1.69-5.39), p-value: 0.000123). However, an other case-control association study, involving breast cancer patients and controls of Japanese ancestry (Momozawa_2018), did not demonstrate significant increase in breast/ovarian cancer risk (i.e. the variant was identified in 5/7051 female cases, and 6/11241 female controls; OR: 1.3 (95%CI: 0.3-5.2)). A further study, involving Korean breast cancer patients, where multifactorial probability was estimated by performing systematic assessments of variants of unknown significance in the BRCA genes (which included analysis of co-occurrence with known deleterious mutations, personal and family history of cancer and tumor pathology), predicted this variant to be likely pathogenic, although the variant was interpreted as likely benign when applying the ACMG/AMP guidelines (Lee_2018). Several publications reported experimental evidence evaluating an impact on protein function, and demonstrated a mild impact on BRCA2 function, representing an activity comparable to wild-type, or a somewhat hypomorphic allele (e.g. Shimelis_2017, Mesman_2018, Guidugli_2018, Ikegami_2020). Eleven other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Multiple laboratories reported the variant with conflicting assessments (VUS, n=6, likely benign, n=3 or benign, n=2). Based on the evidence outlined above, the variant was classified as likely benign. (less)
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Uncertain significance
(Nov 01, 2015)
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criteria provided, single submitter
Method: research
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Breast neoplasm
Affected status: yes
Allele origin:
germline
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Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University
Additional submitter:
Asia and Emerging Markets iMed, AstraZeneca
Accession: SCV000265956.1
First in ClinVar: Sep 14, 2016 Last updated: Sep 14, 2016 |
Number of individuals with the variant: 2
Geographic origin: China
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Uncertain significance
(Jul 21, 2017)
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criteria provided, single submitter
Method: clinical testing
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Invasive Ductal Carcinoma, Not Otherwise Specified
Affected status: yes
Allele origin:
germline
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3DMed Clinical Laboratory Inc
Accession: SCV000804021.1
First in ClinVar: Aug 26, 2018 Last updated: Aug 26, 2018 |
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Uncertain significance
(Jul 21, 2017)
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criteria provided, single submitter
Method: clinical testing
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Ovarian cancer
Affected status: yes
Allele origin:
germline
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3DMed Clinical Laboratory Inc
Accession: SCV000804022.1
First in ClinVar: Aug 26, 2018 Last updated: Aug 26, 2018 |
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Uncertain significance
(Jul 21, 2017)
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criteria provided, single submitter
Method: clinical testing
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Cancer of the pancreas
Affected status: yes
Allele origin:
germline
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3DMed Clinical Laboratory Inc
Accession: SCV000804023.1
First in ClinVar: Aug 26, 2018 Last updated: Aug 26, 2018 |
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Likely benign
(Aug 16, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001133904.5
First in ClinVar: Jan 05, 2020 Last updated: Jan 06, 2024 |
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Uncertain significance
(Mar 20, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000215349.9
First in ClinVar: Mar 24, 2015 Last updated: Aug 11, 2024 |
Comment:
The p.G2508S variant (also known as c.7522G>A), located in coding exon 14 of the BRCA2 gene, results from a G to A substitution at nucleotide … (more)
The p.G2508S variant (also known as c.7522G>A), located in coding exon 14 of the BRCA2 gene, results from a G to A substitution at nucleotide position 7522. The glycine at codon 2508 is replaced by serine, an amino acid with similar properties. This alteration has been detected in multiple individuals diagnosed with breast and/or ovarian cancer (Suter NM et al. Cancer Epidemiol. Biomarkers Prev. 2004 Feb;13:181-9; Lim MC et al. J. Cancer Res. Clin. Oncol. 2009 Nov;135:1593-9; Ng PS et al. Clin. Genet. 2016 Oct;90:315-23; Yoon KA et al. Cancer Res Treat. 2017 Jul;49:627-634; Liang Y et al. Med. Sci. Monit. 2018 Apr;24:2465-2475; Wen WX et al. J. Med. Genet. 2018 Feb;55:97-103; Li JY et al. Int. J. Cancer. 2019 Jan;144:281-289; Zhang Y et al. BMC Cancer, 2022 Aug;22:842). Multiple case-control studies and a meta-analysis of the participants from the Breast Cancer Association Consortium and the Shanghai Breast Cancer Genetic Study show a statistically increased association of this variant with breast cancer (Zhang Y et al. Cancer Epidemiol. Biomarkers Prev. 2014 Apr;23:622-8; Han MR et al. Carcinogenesis. 2017 May;38:511-518; Shimelis H et al. Cancer Res. 2017 Jun;77:2789-2799). Various functional assays indicate that this alteration is intermediately impaired with respect to rescue of lethality in Brca2-null mouse embryonic stem cells, homology directed repair in two cell lines, and PARP inhibition (Shimelis H et al. Cancer Res. 2017 Jun;77:2789-2799). This alteration has been seen with two different pathogenic mutations and one likely pathogenic variant in BRCA2 (phase unknown) in individuals whose clinical histories are not suggestive of Fanconi Anemia (Ambry internal data). Based on data from gnomAD, the frequency for this variant is above the maximum credible frequency for a disease-causing variant in this gene based on internally established thresholds (Karczewski et al. Nature. 2020 May;581(7809):434-443; Whiffin et al. Genet Med. 2017 10;19:1151-1158). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. (less)
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Likely benign
(Oct 07, 2008)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 2
Affected status: not provided
Allele origin:
germline
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000109201.2
First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014 |
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Uncertain significance
(-)
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no assertion criteria provided
Method: clinical testing
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Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000592120.2 First in ClinVar: Mar 08, 2017 Last updated: Apr 13, 2021 |
Comment:
The BRCA2, p.Gly2508Ser variant was identified in 6 of 1220 proband chromosomes (frequency: 0.005) from individuals or families with breast, ovarian and thyroid cancers. (Lim … (more)
The BRCA2, p.Gly2508Ser variant was identified in 6 of 1220 proband chromosomes (frequency: 0.005) from individuals or families with breast, ovarian and thyroid cancers. (Lim 2009, Yu 2015, Wong 2016). The variant was also identified 1x in a study of 681 health controls in an east Asian individual (Bodian 2014). The variant was also identified in dbSNP (ID: rs80358978) “With other allele.” This variant was identified in the Exome Aggregation Consortium (ExAC) database (March 14, 2016) in 13 of 8636 chromosomes (frequency: 0 0.0015) in the East Asian population, and was not found in populations of South Asians, European (Non-Finnish), African, Latino, European (Finnish) and other individuals, increasing the likelihood that this may be a low frequency benign variant in certain populations of origin. In the Clinvar Database the variant was identified with conflicting interpretations: as likely benign by Invitae, GeneDX and Sharing Reports Project derived from Myriad reports, as uncertain significance by Ambry Genetics and BIC,classification was not provided by ITMI. In BIC the variant was identified 4x with unknown clinical significance. In the Fanconi Anaemia Mutation Database (LOVD) the variant was identified 2x (1x as neutral by Karchin 2008 and 1x as deleterious by Pettigrew 2008). This variant was not identified in NHLBI Exome Sequencing Project (Exome Variant Server), COSMIC, GeneInsight COGR, or ARUP Laboratories Databases. The p.Gly2508 residue is conserved across mammals and lower organisms, and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) suggest that the Ser (Serine) variant may impact the protein. However, this information is not predictive enough to assume pathogenicity. Karchin et al 2008 has concluded the variant as predicted neutral using protein likelihood ratios to determine all variants of undetermined significance in the C-terminal binding domain of the BRCA2 protein. However, the variant was predicted to result in an increased exonic splice enhancer (ESE) motif score at an evolutionarily conserved ESE (Pettigrew 2008) and therefore the variant was concluded to be deleterious. In a multigene panel study of breast cancer predisposition in Asians, the authors categorized the p.Gly2508Ser variant as pathogenic using Manchester and Boadicea scores. Family history was evaluated in this multigene study (Wong 2016). In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. (less)
Number of individuals with the variant: 1
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Uncertain significance
(-)
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no assertion criteria provided
Method: literature only
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Familial cancer of breast
Affected status: yes
Allele origin:
germline
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Center for Precision Medicine, Meizhou People's Hospital
Accession: SCV002520832.1
First in ClinVar: Jun 03, 2022 Last updated: Jun 03, 2022 |
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Uncertain significance
(Feb 20, 2004)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 2
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000147112.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 3
Ethnicity/Population group: Asian
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: Asian, Central/Eastern European, Philipi
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not provided
(Sep 19, 2013)
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no classification provided
Method: reference population
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AllHighlyPenetrant
Affected status: unknown
Allele origin:
germline
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ITMI
Accession: SCV000084511.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014
Comment:
Please see associated publication for description of ethnicities
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Observation 1:
Ethnicity/Population group: Whole_cohort
Observation 2:
Ethnicity/Population group: African
Observation 3:
Ethnicity/Population group: African_European
Observation 4:
Ethnicity/Population group: Central_Asian
Observation 5:
Ethnicity/Population group: East_Asian
Observation 6:
Ethnicity/Population group: European
Observation 7:
Ethnicity/Population group: Hispanic
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Likely pathogenic
(Jan 01, 2022)
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Flagged submission
flagged submission
Method: clinical testing
Reason: Outlier claim with insufficient supporting evidence
Source: ClinGen
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Ovarian cancer
Affected status: yes
Allele origin:
germline
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Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University
Accession: SCV003843570.1
First in ClinVar: Mar 26, 2023 Last updated: Mar 26, 2023 |
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Flagged submissions do not contribute to the aggregate classification or review status for the variant. Learn more |
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients. | Zhang Y | BMC cancer | 2022 | PMID: 35918668 |
Germline pathogenic variants in unselected Korean men with prostate cancer. | So MK | Investigative and clinical urology | 2022 | PMID: 35534218 |
Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel. | Jiang W | Journal of medical genetics | 2022 | PMID: 33563768 |
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2). | Tokunaga H | PloS one | 2021 | PMID: 33428613 |
Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population. | Dong H | Journal of medical genetics | 2021 | PMID: 32467295 |
Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population. | Jiang Y | BioMed research international | 2020 | PMID: 32879886 |
High-throughput functional evaluation of BRCA2 variants of unknown significance. | Ikegami M | Nature communications | 2020 | PMID: 32444794 |
Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients. | Gao X | Human mutation | 2020 | PMID: 31825140 |
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients. | Bhaskaran SP | International journal of cancer | 2019 | PMID: 30702160 |
The functional impact of variants of uncertain significance in BRCA2. | Mesman RLS | Genetics in medicine : official journal of the American College of Medical Genetics | 2019 | PMID: 29988080 |
Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer. | Li JY | International journal of cancer | 2019 | PMID: 29752822 |
Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort. | Lee JS | Journal of medical genetics | 2018 | PMID: 30415210 |
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls. | Momozawa Y | Nature communications | 2018 | PMID: 30287823 |
Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing. | Liang Y | Medical science monitor : international medical journal of experimental and clinical research | 2018 | PMID: 29681614 |
Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches. | Guidugli L | American journal of human genetics | 2018 | PMID: 29394989 |
Unclassified Variants of BRCA1 and BRCA2 in Korean Patients With Ovarian Cancer. | Choi MC | International journal of gynecological cancer : official journal of the International Gynecological Cancer Society | 2018 | PMID: 29240602 |
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals. | Yamaguchi-Kabata Y | Journal of human genetics | 2018 | PMID: 29192238 |
Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia. | Wen WX | Journal of medical genetics | 2018 | PMID: 28993434 |
BRCA1/2 germline missense mutations: a systematic review. | Corso G | European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) | 2018 | PMID: 28277317 |
Evaluating genetic variants associated with breast cancer risk in high and moderate-penetrance genes in Asians. | Han MR | Carcinogenesis | 2017 | PMID: 28419251 |
Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea. | Kim DH | BMC medical genetics | 2017 | PMID: 28351343 |
BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer. | Shimelis H | Cancer research | 2017 | PMID: 28283652 |
Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls. | Park JS | Cancer research and treatment | 2017 | PMID: 28111427 |
Clinically Significant Unclassified Variants in BRCA1 and BRCA2 genes among Korean Breast Cancer Patients. | Yoon KA | Cancer research and treatment | 2017 | PMID: 27658390 |
Prevalence and clinical significance of BRCA1/2 germline and somatic mutations in Taiwanese patients with ovarian cancer. | Chao A | Oncotarget | 2016 | PMID: 27907908 |
Germline Variants of Prostate Cancer in Japanese Families. | Hayano T | PloS one | 2016 | PMID: 27701467 |
Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. | Zhong X | PloS one | 2016 | PMID: 27257965 |
Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel. | Kwong A | The Journal of molecular diagnostics : JMD | 2016 | PMID: 27157322 |
Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing. | Ng PS | Clinical genetics | 2016 | PMID: 26757417 |
Targeted DNA Sequencing Detects Mutations Related to Susceptibility among Familial Non-medullary Thyroid Cancer. | Yu Y | Scientific reports | 2015 | PMID: 26530882 |
Germline Mutations of BRCA1 and BRCA2 in Korean Ovarian Cancer Patients: Finding Founder Mutations. | Choi MC | International journal of gynecological cancer : official journal of the International Gynecological Cancer Society | 2015 | PMID: 26402875 |
Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population. | Wong ES | PloS one | 2015 | PMID: 26221963 |
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. | Yurgelun MB | Gastroenterology | 2015 | PMID: 25980754 |
Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases. | Vail PJ | Journal of community genetics | 2015 | PMID: 25782689 |
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. | Bodian DL | PloS one | 2014 | PMID: 24728327 |
Rare coding variants and breast cancer risk: evaluation of susceptibility Loci identified in genome-wide association studies. | Zhang Y | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2014 | PMID: 24470074 |
Frequent germline mutation in the BRCA2 gene in esophageal squamous cell carcinoma patients from a low-risk Chinese population. | Zhong L | Asian Pacific journal of cancer prevention : APJCP | 2011 | PMID: 22126563 |
Detection of BRCA1 and BRCA2 mutations in a selected Hawaii population. | Carney ME | Hawaii medical journal | 2010 | PMID: 21218378 |
BRCA1 and BRCA2 germline mutations in Korean ovarian cancer patients. | Lim MC | Journal of cancer research and clinical oncology | 2009 | PMID: 19499246 |
Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. | Karchin R | Cancer informatics | 2008 | PMID: 19043619 |
Performance of BRCA1/2 mutation prediction models in Asian Americans. | Kurian AW | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2008 | PMID: 18779604 |
Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants. | Pettigrew CA | Breast cancer research and treatment | 2008 | PMID: 17899372 |
BRCA1 and BRCA2 mutations in women from Shanghai China. | Suter NM | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2004 | PMID: 14973102 |
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HelpRecord last updated Sep 29, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.