ClinVar Miner

Submissions for variant NC_000017.11:g.(?_43070908)_(43071258_?)dup

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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 RCV001033908 SCV001197215 likely pathogenic Hereditary breast ovarian cancer syndrome 2021-08-31 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 15 of the BRCA1 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may 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 personal and/or family history of breast and ovarian cancer (PMID: 29582426). This variant is also known as exon 16. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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