ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.595G>A (p.Ala199Thr) (rs376582345)

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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 RCV000132207 SCV000187289 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000228169 SCV000283279 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-24 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 199 of the BRCA2 protein (p.Ala199Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals with breast cancer (PMID: 20104584). ClinVar contains an entry for this variant (Variation ID: 91429). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000076946 SCV000108743 uncertain significance Breast-ovarian cancer, familial 2 2009-03-26 no assertion criteria provided clinical testing

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