ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.100A>G (p.Arg34Gly)

dbSNP: rs2145852980
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002041049 SCV002316553 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2021-01-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glycine at codon 34 of the BRIP1 protein (p.Arg34Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant has not been reported in the literature in individuals with BRIP1-related conditions. 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0").
Baylor Genetics RCV003464395 SCV004214747 uncertain significance Familial cancer of breast 2023-09-20 criteria provided, single submitter clinical testing

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