ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1474-?_1628+?del

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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 RCV000205790 SCV000259683 pathogenic Familial cancer of breast 2015-07-30 criteria provided, single submitter clinical testing This sequence change is a gross deletion of the genomic region encompassing exon 11 of the BRIP1 gene. This deletion extends to both edges of the assayed exon, and the exact 5' and 3' boundaries of this event are not known. This gross deletion is predicted to result in a frameshift at codon 492. This creates a premature translational stop signal (p.Gly492IlefsX4) and is expected to result in an absent or disrupted protein product. While this particular deletion has not been reported in the literature, truncating 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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