ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9649-6del (rs276174929)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000590496 SCV000695259 uncertain significance not provided 2016-06-20 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9649-6delT variant involves the alteration of a non-conserved intronic thymine nucleotide in a poly-T intronic tract of intron 26. One in silico tool predicts a damaging outcome for this variant, and 5/5 splicing algorithms predict no significant change to normal splicing, although these predictions have yet to be functionally assessed. . This variant was absent in 119280 control chromosomes, and has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. In addition, one diagnostic laboratory classified this variant as a VUS. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV000590496 SCV001064270 likely benign not provided 2018-01-16 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083007 SCV000115081 uncertain significance Breast-ovarian cancer, familial 2 2012-01-25 no assertion criteria provided clinical testing

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.