ClinVar Miner

Submissions for variant NC_000017.10:g.(?_41209049)_(41215988_?)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 RCV000707822 SCV000836932 likely pathogenic Hereditary breast ovarian cancer syndrome 2019-11-30 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 17-19 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 duplications have been reported in two families undergoing testing for hereditary breast and/or ovarian cancer (PMID: 18330910, 12203994). This region is also known as exons 18-20 in the literature. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). 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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