ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1417del (p.Met473fs)

dbSNP: rs2145241576
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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 RCV001936526 SCV002203652 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2021-09-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Met473Cysfs*3) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). This variant is not present in population databases (ExAC no frequency).

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