ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1651G>C (p.Ala551Pro)

dbSNP: rs766302517
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053258 SCV001217512 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2021-10-06 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is present in population databases (rs766302517, ExAC 0.006%). This sequence change replaces alanine with proline at codon 551 of the BRIP1 protein (p.Ala551Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline.

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