ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1221T>G (p.Ser407Arg)

dbSNP: rs2077950726
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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 RCV001297785 SCV001486816 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2022-03-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1001476). 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. Studies have shown that this missense change is associated with altered splicing resulting in unknown protein product impact (Invitae). 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 disruptive. This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 407 of the BRIP1 protein (p.Ser407Arg).

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