ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1963C>T (p.Pro655Ser) (rs753036322)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570087 SCV000661576 uncertain significance Hereditary cancer-predisposing syndrome 2016-12-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000231802 SCV000290999 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2015-11-18 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 655 of the BRIP1 protein (p.Pro655Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (ExAC, <0.01%) but has not been reported in the literature as a germline mutation. 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 disruptive, but these predictions have not been confirmed by published functional studies. In summary, this is a rare missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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