ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9344A>G (p.Lys3115Arg) (rs276174923)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045795 SCV000073808 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-07-31 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 3115 of the BRCA2 protein (p.Lys3115Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs276174923, 0.04%) but has not been published in the literature. This variant has been reported in individuals in the Breast Cancer Information Core database (PMID: 10923033). 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a rare missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000223579 SCV000272968 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Counsyl RCV000114092 SCV000487764 uncertain significance Breast-ovarian cancer, familial 2 2015-11-21 criteria provided, single submitter clinical testing
Color RCV000223579 SCV000689190 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-30 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000114092 SCV000147612 uncertain significance Breast-ovarian cancer, familial 2 2010-09-18 no assertion criteria provided clinical testing

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