ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3949A>T (p.Thr1317Ser) (rs398122773)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509876 SCV000608239 uncertain significance Hereditary cancer-predisposing syndrome 2015-12-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence,In silico models in agreement (benign)
Invitae RCV000229385 SCV000283221 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-02-11 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 1317 of the BRCA2 protein (p.Thr1317Ser). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in two patients with personal and/or family history of breast cancer (PMID: 21120943). ClinVar contains an entry for this variant (Variation ID: 91810). The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. In addition, 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. It has been classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000077718 SCV000109521 uncertain significance Breast-ovarian cancer, familial 2 2008-05-07 no assertion criteria provided clinical testing

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