ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1374A>C (p.Glu458Asp)

dbSNP: rs2145243668
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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 RCV001955405 SCV002210587 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2022-06-13 criteria provided, single submitter clinical testing 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 glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 458 of the BRIP1 protein (p.Glu458Asp). 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: "Tolerated"; PolyPhen-2: "Possibly 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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