ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.-31+498_187del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000684867 SCV000812328 pathogenic Familial cancer of breast; Fanconi anemia, complementation group J 2018-06-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 2, which includes the initiator codon, and the first 94 nucleotides of exon 3 of the BRIP1 gene (c.-31+498_187del). This likely creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has been reported in the literature in an individual affected with ovarian cancer (PMID: 28783718). Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). For these reasons, this variant has been classified as Pathogenic.

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