ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7088A>G (p.Tyr2363Cys) (rs80358939)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164874 SCV000215559 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient evidence
Counsyl RCV000113706 SCV000784920 uncertain significance Breast-ovarian cancer, familial 2 2017-02-14 criteria provided, single submitter clinical testing
Color RCV000164874 SCV000911245 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779940 SCV000916881 uncertain significance not specified 2018-03-15 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.7088A>G (p.Tyr2363Cys) results in a non-conservative amino acid change in the encoded protein sequence outside of any known functional domain or repeat. 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 4.1e-06 in 1/246216 control chromosomes (East Asians: 1/17244 chrs tested). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.7088A>G has been reported in the literature in individuals of East Asian descent affected with Breast and/or Ovarian Cancer (Kim 2006, Han 2006, Eoh 2017, Li 2017). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Co-occurrence with another pathogenic variant has been reported (UMD database: BRCA1 c.1067delA , p.Gln356fsX18), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113706 SCV000147019 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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