ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.262T>G (p.Cys88Gly)

dbSNP: rs1555617890
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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 RCV000636078 SCV000757510 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2019-06-14 criteria provided, single submitter clinical testing This sequence change replaces cysteine with glycine at codon 88 of the BRIP1 protein (p.Cys88Gly). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRIP1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function 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.

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