ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn)

gnomAD frequency: 0.00003  dbSNP: rs80359051
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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081007 SCV000073433 likely benign Hereditary breast ovarian cancer syndrome 2021-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129422 SCV000184192 benign Hereditary cancer-predisposing syndrome 2020-02-29 criteria provided, single submitter clinical testing Co-occurence with mutation in same gene (phase unknown);In silico models in agreement (benign);Other data supporting benign classification
GeneDx RCV000203629 SCV000210666 likely benign not provided 2021-06-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26689913, 28111427, 19043619, 25111659, 20104584, 28324225, 25348012, 20167696, 32444794, 29884841, 27535533, 12228710, 31131967)
Michigan Medical Genetics Laboratories,University of Michigan RCV000083143 SCV000267816 benign Breast-ovarian cancer, familial, susceptibility to, 2 2016-04-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000203629 SCV000600783 likely benign not provided 2020-01-07 criteria provided, single submitter clinical testing
Counsyl RCV000083143 SCV000784898 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2017-02-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000129422 SCV000910968 benign Hereditary cancer-predisposing syndrome 2016-01-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000045420 SCV000918918 benign not specified 2022-01-17 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.8090G>A (p.Ser2697Asn) results in a conservative amino acid change in the encoded protein sequence. Four of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-05 in 251314 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in BRCA2 causing Hereditary Breast And Ovarian Cancer Syndrome (4e-05 vs 0.00075), allowing no conclusion about variant significance. c.8090G>A has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome. These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. Co-occurrences with one pathogenic variant have been reported in multiple individuals (BRCA2 c.1800T>G, p.Tyr600Ter, BIC and UMD databases; BRCA1, c.2138C>G, p.Ser713Ter, internal database), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Ten 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 (benign/likely benign n=7, VUS n=3). Based on the evidence outlined above, the variant was classified as benign.
CeGaT Center for Human Genetics Tuebingen RCV000203629 SCV001746177 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001762154 SCV002010318 uncertain significance Familial cancer of breast 2021-11-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001798239 SCV002043503 uncertain significance Breast and/or ovarian cancer 2019-07-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000045420 SCV002069624 likely benign not specified 2019-08-30 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083143 SCV000115217 benign Breast-ovarian cancer, familial, susceptibility to, 2 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000083143 SCV000147271 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2004-02-20 no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute RCV000203629 SCV001906149 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000203629 SCV001957482 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000203629 SCV001972497 likely benign not provided no assertion criteria provided clinical testing
Center for Precision Medicine,Meizhou People's Hospital RCV001762154 SCV002520839 likely benign Familial cancer of breast no assertion criteria provided literature only

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