ClinVar Miner

Submissions for variant NC_000017.11:g.(?_61847091)_(61861549_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001031313 SCV001194619 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2019-07-04 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 2-6 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 6 of the BRIP1 gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with BRIP1-related conditions. 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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