ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.260G>A (p.Cys87Tyr)

dbSNP: rs863224800
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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 RCV000200543 SCV000255158 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2019-12-11 criteria provided, single submitter clinical testing 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. 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. This variant has not been published in the literature and is not present in population databases. ClinVar contains an entry for this variant (Variation ID: 216790). This sequence change replaces cysteine with tyrosine at codon 87 of the BRIP1 protein (p.Cys87Tyr). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and tyrosine.

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