ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6152A>G (p.Asn2051Ser) (rs398122549)

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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 RCV000222229 SCV000275243 uncertain significance Hereditary cancer-predisposing syndrome 2015-04-20 criteria provided, single submitter clinical testing
Color RCV000222229 SCV000906130 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-10 criteria provided, single submitter clinical testing
Invitae RCV000203759 SCV000261478 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-10-21 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 2051 of the BRCA2 protein (p.Asn2051Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. ClinVar contains an entry for this variant (Variation ID: 91439). 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. The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. In summary, this is a novel 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. It has been classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000076956 SCV000108753 uncertain significance Breast-ovarian cancer, familial 2 2006-09-01 no assertion criteria provided clinical testing

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