ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9275A>C (p.Tyr3092Ser) (rs80359195)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569862 SCV000665053 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000077465 SCV000147596 uncertain significance Breast-ovarian cancer, familial 2 2001-10-29 no assertion criteria provided clinical testing
Invitae RCV000045773 SCV000073786 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-02-22 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with serine at codon 3092 of the BRCA2 protein (p.Tyr3092Ser). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with breast cancer (PMID: 21120943, 24916970), as well as an individual in the Breast Cancer Information Core database (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 52799). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. However, experimental evidence using homology directed functional assays suggests this variant has intermediate activity (PMID: 24323938, 23108138). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000077465 SCV000109263 uncertain significance Breast-ovarian cancer, familial 2 2007-12-07 no assertion criteria provided clinical testing

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