ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5514G>T (p.Val1838=)

gnomAD frequency: 0.00001  dbSNP: rs786201248
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
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) RCV000494811 SCV000578466 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Ambry Genetics RCV000163167 SCV000213685 likely benign Hereditary cancer-predisposing syndrome 2015-11-17 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.
Invitae RCV001084170 SCV000560321 likely benign Hereditary breast ovarian cancer syndrome 2024-01-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163167 SCV000683331 likely benign Hereditary cancer-predisposing syndrome 2016-05-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759561 SCV000888950 likely benign not provided 2018-06-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781016 SCV000918768 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
GeneDx RCV000759561 SCV001843134 likely benign not provided 2019-11-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30209399)
Sema4, Sema4 RCV000163167 SCV002537869 likely benign Hereditary cancer-predisposing syndrome 2020-12-23 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000781016 SCV004026743 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Brotman Baty Institute, University of Washington RCV000494811 SCV001237610 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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.