ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.11T>C (p.Met4Thr)

dbSNP: rs2078973570
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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 RCV001349928 SCV001544296 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2022-10-08 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRIP1 protein function. ClinVar contains an entry for this variant (Variation ID: 1045507). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 4 of the BRIP1 protein (p.Met4Thr).

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