ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7341T>C (p.Asn2447=)

gnomAD frequency: 0.00004  dbSNP: rs4986858
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
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) RCV000495383 SCV000579100 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 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/).
GeneDx RCV001703634 SCV000520087 likely benign not provided 2021-01-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000524979 SCV000635567 likely benign Hereditary breast ovarian cancer syndrome 2025-01-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000581004 SCV000683867 likely benign Hereditary cancer-predisposing syndrome 2015-04-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000417809 SCV000695056 likely benign not specified 2020-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581004 SCV001188650 likely benign Hereditary cancer-predisposing syndrome 2015-12-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Sema4, Sema4 RCV000581004 SCV002531852 likely benign Hereditary cancer-predisposing syndrome 2021-05-18 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV004804999 SCV004844397 likely benign BRCA2-related cancer predisposition 2024-06-17 criteria provided, single submitter 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.