ClinVar Miner

Submissions for variant NC_000017.11:g.(?_61776395)_(61861545_?)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 RCV000636239 SCV000757671 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2017-11-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with BRIP1-related disease. This variant is a gross deletion of the genomic region encompassing exons 2-14 of the BRIP1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 14 of the BRIP1 gene. This is expected to result in an absent or disrupted protein product. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575).

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