ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8723T>G (p.Val2908Gly) (rs28897753)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131647 SCV000186674 likely benign Hereditary cancer-predisposing syndrome 2017-08-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),Other data supporting benign classification,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Breast Cancer Information Core (BIC) (BRCA2) RCV000077449 SCV000147444 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000131647 SCV000683994 likely benign Hereditary cancer-predisposing syndrome 2016-05-02 criteria provided, single submitter clinical testing
Counsyl RCV000077449 SCV000220798 likely benign Breast-ovarian cancer, familial 2 2014-10-15 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000045608 SCV000592224 likely benign not specified 2015-10-27 criteria provided, single submitter clinical testing
GeneDx RCV000045608 SCV000210673 likely benign not specified 2017-04-04 criteria provided, single submitter clinical testing 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.
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000131647 SCV000679727 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000045608 SCV000918926 likely benign not specified 2017-11-03 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.8723T>G (p.Val2908Gly) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. This variant was found in 4/247044 control chromosomes at a frequency of 0.0000162, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). The variant has been identified in breast cancer patients without strong evidence for causality, such as cosegregation with disease. In support of a benign impact, the variant has been found to co-occur in at least two patients with different deleterious BRCA1 mutations (one listed in UMD - c.3018_3021delTTCA; one listed in BIC - p.Tyr1563X). Additionally, numerous and diverse functional assays, such as survival assay by MMC (mitomycin-C) sensitivity, homology directed repair, and centriole amplification assays, showed that this variant behaves like wild-type (Wu_2005 and Farrugia_2008). Furthermore, eight clinical diagnostic laboratories/reputable databases have classified this variant as likely benign in ClinVar. Taken together, the evidence for a benign outcome far exceeds all other evidence, thus the variant is classified as likely benign.
Invitae RCV000167857 SCV000073621 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-02 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000077449 SCV000196017 likely benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000045608 SCV000600820 likely benign not specified 2016-09-22 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077449 SCV000109247 likely benign Breast-ovarian cancer, familial 2 2008-10-23 no assertion criteria provided clinical testing

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