ClinVar Miner

Submissions for variant NC_000017.10:g.(?_41215330)_(41223340_?)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 RCV001380929 SCV001579146 pathogenic Hereditary breast ovarian cancer syndrome 2022-03-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with breast cancer (PMID: 25066507). This variant is a gross deletion of the genomic region encompassing exon(s) 15-18 of the BRCA1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).

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