ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3794G>T (p.Cys1265Phe) (rs397507315)

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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 RCV000131347 SCV000186322 likely benign Hereditary cancer-predisposing syndrome 2017-08-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other strong data supporting benign classification
Counsyl RCV000031438 SCV000488160 uncertain significance Breast-ovarian cancer, familial 2 2016-02-19 criteria provided, single submitter clinical testing
Invitae RCV000555191 SCV000635309 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-05-30 criteria provided, single submitter clinical testing This sequence change replaces cysteine with phenylalanine at codon 1265 of the BRCA2 protein (p.Cys1265Phe). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual from a cohort seeking BRCA1/2 testing for a concern of hereditary breast and ovarian cancer syndrome (PMID: 18779604). ClinVar contains an entry for this variant (Variation ID: 37857). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The phenylalanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on BRCA2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000031438 SCV000054043 uncertain significance Breast-ovarian cancer, familial 2 2009-02-03 no assertion criteria provided clinical testing

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