ClinVar Miner

Submissions for variant NC_000017.11:g.(?_43082404)_(43124115_?)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 RCV000466173 SCV000564056 pathogenic Hereditary breast ovarian cancer syndrome 2016-12-30 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 2-12 of the BRCA1 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 12 of the BRCA1 gene. This is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). Similar subgenic deletions encompassing at least exons 2-12 of the BRCA1 gene (also known as exons 2-13) have been reported in individuals affected with breast and/or ovarian cancer (PMID: 19894111, 23683081, 24686251, 18501021). For these reasons, this variant has been classified as Pathogenic.

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