ClinVar Miner

Submissions for variant NC_000017.11:g.(?_43045672)_(43115785_?)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 RCV000550289 SCV000635109 pathogenic Hereditary breast ovarian cancer syndrome 2017-02-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While deletion of exons 3-23 of BRCA1 has not been reported in the literature, loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is a gross deletion of the genomic region encompassing exons 3-23 of the BRCA1 gene. The 5' boundary is likely confined to intron 2. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation.

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