ClinVar Miner

Submissions for variant NC_000017.11:g.(?_43070908)_(43076634_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001033737 SCV001197044 pathogenic Hereditary breast ovarian cancer syndrome 2019-10-12 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 13-15 of the BRCA1 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. Similar copy number gain of exons 13-15 has been observed in an individual undergoing genetic counseling for hereditary breast and/or ovarian cancer syndrome (PMID: 18330910). Exons 13-15 are also known as exons 14-16 in the literature. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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