ClinVar Miner

Submissions for variant NC_000017.10:g.(?_41197695)_(41251917_?)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 RCV003109665 SCV003791655 pathogenic Hereditary breast ovarian cancer syndrome 2022-05-25 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 7-23 of the BRCA1 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. A similar copy number variant has been observed in individual(s) with breast cancer (PMID: 16551709). The region of the BRCA1 gene that includes exon(s) 7-23 (often referred to in the literature as exons 8-24) has been determined to be clinically significant (PMID: 16551709). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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