ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9257-18C>A (rs81002807)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087692 SCV000073778 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-17 criteria provided, single submitter clinical testing
Color Health, Inc RCV000581645 SCV000689185 likely benign Hereditary cancer-predisposing syndrome 2015-03-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589582 SCV000695227 likely benign not provided 2016-07-22 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9257-18C>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant is absent in 106186 control chromosomes. This variant has been reported in two BrC patients without strong evidence for causality. In addition, one clinical diagnostic laboratory classified this variant as likely benign, without evidence to independently evaluate. Chen_2006 showed no change on mRNA was detected and this variant was classified as a benign polymorphism. Taken together, this variant is classified as likely benign until more evidence becomes available.
Breast Cancer Information Core (BIC) (BRCA2) RCV000114079 SCV000147588 uncertain significance Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496341 SCV000587993 uncertain significance not specified 2014-01-31 no assertion criteria provided research

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.