ClinVar Miner

Submissions for variant NM_007299.4(BRCA1):c.787+1322A>G (rs4986844)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 13
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) RCV000111772 SCV000578000 benign Breast-ovarian cancer, familial 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0052 (African), derived from ExAC (2014-12-17).
Invitae RCV000047711 SCV000075724 benign Hereditary breast and ovarian cancer syndrome 2018-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000173831 SCV000167250 benign not specified 2013-11-04 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.
Ambry Genetics RCV000162519 SCV000212913 likely benign Hereditary cancer-predisposing syndrome 2014-07-23 criteria provided, single submitter clinical testing
Counsyl RCV000111772 SCV000220557 likely benign Breast-ovarian cancer, familial 1 2014-07-30 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173831 SCV000224987 benign not specified 2014-10-07 criteria provided, single submitter clinical testing
Michigan Medical Genetics Laboratories,University of Michigan RCV000111772 SCV000267697 benign Breast-ovarian cancer, familial 1 2016-04-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV000476210 SCV000540965 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000173831 SCV000591370 benign not specified 2012-11-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000173831 SCV000602729 benign not specified 2017-05-11 criteria provided, single submitter clinical testing
Color RCV000162519 SCV000683012 benign Hereditary cancer-predisposing syndrome 2015-10-09 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111772 SCV000144304 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735514 SCV000863652 benign Breast and/or ovarian cancer 2012-08-27 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.