ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2929G>C (p.Ala977Pro) (rs864622628)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204833 SCV000261415 uncertain significance Familial cancer of breast 2015-10-20 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 977 of the BRIP1 protein (p.Ala977Pro). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and proline. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. 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 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.

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