ClinVar Miner

Submissions for variant NC_000017.10:g.(?_41209049)_(41215988_?)dup

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.