ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1166C>T (p.Pro389Leu)

dbSNP: rs397507263
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085676 SCV000252995 likely benign Hereditary breast ovarian cancer syndrome 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000589187 SCV000516030 likely benign not provided 2019-03-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27616075)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000439294 SCV000600470 uncertain significance not specified 2016-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571104 SCV000661187 likely benign Hereditary cancer-predisposing syndrome 2019-03-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589187 SCV000694514 uncertain significance not provided 2017-07-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000571104 SCV000903277 benign Hereditary cancer-predisposing syndrome 2016-09-14 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV001085676 SCV002026064 likely benign Hereditary breast ovarian cancer syndrome 2021-11-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000571104 SCV002533212 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-10 criteria provided, single submitter curation
University of Washington Department of Laboratory Medicine, University of Washington RCV000571104 SCV003849888 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Sharing Clinical Reports Project (SCRP) RCV000031308 SCV000053913 benign Breast-ovarian cancer, familial, susceptibility to, 2 2012-05-31 no assertion criteria provided clinical testing
Center for Precision Medicine, Meizhou People's Hospital RCV002250483 SCV002520931 likely benign Familial cancer of breast no assertion criteria provided literature only

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.