ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4856A>G (p.Asn1619Ser) (rs80358709)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000113352 SCV000786349 uncertain significance Breast-ovarian cancer, familial 2 2018-04-18 criteria provided, single submitter clinical testing
Color RCV000773266 SCV000906914 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781110 SCV000918948 uncertain significance not specified 2018-08-24 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.4856A>G (p.Asn1619Ser) 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 was absent in 245428 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.4856A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have 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) RCV000113352 SCV000146495 uncertain significance Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing

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