ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1105G>A (p.Asp369Asn) (rs56056711)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000030971 SCV000244294 benign Breast-ovarian cancer, familial 1 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.00000568
Invitae RCV000047341 SCV000075354 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162972 SCV000213460 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000435629 SCV000515314 likely benign not specified 2017-03-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000030971 SCV000785357 benign Breast-ovarian cancer, familial 1 2017-07-12 criteria provided, single submitter clinical testing
Color RCV000162972 SCV000903485 benign Hereditary cancer-predisposing syndrome 2016-06-19 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000030971 SCV000053562 likely benign Breast-ovarian cancer, familial 1 2012-01-28 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000030971 SCV000144010 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735458 SCV000863595 pathogenic Breast and/or ovarian cancer 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.