ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1666_1669dup (p.Ser557fs)

dbSNP: rs2077611091
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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 RCV001067520 SCV001232586 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2023-07-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser557Leufs*8) 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 861084). For these reasons, this variant has been classified as Pathogenic.

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