ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5896C>T (p.His1966Tyr) (rs80358822)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000225745 SCV000072800 likely benign not provided 2019-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131689 SCV000186725 uncertain significance Hereditary cancer-predisposing syndrome 2014-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000044787 SCV000210622 likely benign not specified 2017-11-02 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.
Vantari Genetics RCV000131689 SCV000267020 likely benign Hereditary cancer-predisposing syndrome 2015-11-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000044787 SCV000694915 uncertain significance not specified 2019-06-06 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.5896C>T (p.His1966Tyr) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 250972 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.5896C>T has been reported in the literature in affected individuals (Caux-Moncoutier_2011, Spearman_2008, Lu_2015). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Co-occurrences with other pathogenic variants have been reported (BRCA1 c.213-11T>G and BRIP1 c.2392C>T (p.Arg798X) in two internal samples), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six other submitters have provided clinical-significance assessments for this variant in ClinVar after 2014 (without evidence for independent evaluation), and classified the variant as VUS (2x) or likely benign (4x). Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Counsyl RCV000031586 SCV000785127 uncertain significance Breast-ovarian cancer, familial 2 2017-05-01 criteria provided, single submitter clinical testing
Color RCV000131689 SCV000910982 likely benign Hereditary cancer-predisposing syndrome 2017-04-10 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031586 SCV000054192 likely benign Breast-ovarian cancer, familial 2 2010-02-11 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031586 SCV000146726 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761156 SCV000891072 uncertain significance B lymphoblastic leukemia lymphoma with hyperdiploidy 2016-12-27 no assertion criteria provided clinical testing

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