ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2495G>A (p.Cys832Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003064480 SCV003443308 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2022-09-27 criteria provided, single submitter clinical testing This variant is also known as C832Y 2636G<A. This missense change has been observed in individual(s) with ovarian cancer (PMID: 26315354). This variant is present in population databases (rs4988355, gnomAD 0.0009%). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 832 of the BRIP1 protein (p.Cys832Tyr). 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: "Deleterious"; 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. Experimental studies have shown that this missense change affects BRIP1 function (PMID: 31822495).

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