ClinVar Miner

Submissions for variant NC_000017.11:g.(?_43090924)_(43094880_?)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 RCV001031794 SCV001195100 pathogenic Hereditary breast ovarian cancer syndrome 2021-08-12 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 10-11 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). A similar copy number variant has been observed in individual(s) with a personal and/or family history of breast and/or ovarian cancer (PMID: 21120943). This variant is also known as exons 11-12. For these reasons, this variant has been classified as Pathogenic.

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