ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.685T>C (p.Ser229Pro)

dbSNP: rs2145421239
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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 RCV001892818 SCV002149932 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2021-09-29 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 229 of the BRIP1 protein (p.Ser229Pro). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and proline. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is not present in population databases (ExAC no frequency).

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