ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8867A>C (p.Glu2956Ala) (rs151174152)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130252 SCV000185096 likely benign Hereditary cancer-predisposing syndrome 2018-09-18 criteria provided, single submitter clinical testing
Counsyl RCV000031772 SCV000487803 uncertain significance Breast-ovarian cancer, familial 2 2015-11-17 criteria provided, single submitter clinical testing
Invitae RCV000476614 SCV000549760 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781140 SCV000919001 uncertain significance not specified 2018-09-24 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.8867A>C (p.Glu2956Ala) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 7.2e-06 in 276410 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.8867A>C in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985609 SCV001133951 uncertain significance not provided 2019-04-08 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031772 SCV000054380 likely benign Breast-ovarian cancer, familial 2 2012-05-01 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.