ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4023A>C (p.Ser1341=)

gnomAD frequency: 0.00001  dbSNP: rs276174840
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) RCV000113261 SCV000578774 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/).
Labcorp Genetics (formerly Invitae), Labcorp RCV000044333 SCV000072346 likely benign Hereditary breast ovarian cancer syndrome 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000217669 SCV000275643 likely benign Hereditary cancer-predisposing syndrome 2015-11-20 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.
Color Diagnostics, LLC DBA Color Health RCV000217669 SCV000683595 likely benign Hereditary cancer-predisposing syndrome 2016-12-21 criteria provided, single submitter clinical testing
Mendelics RCV000113261 SCV001139079 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001705696 SCV001883274 benign not provided 2015-09-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23096105)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002271388 SCV002556185 likely benign not specified 2022-06-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001705696 SCV004219608 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing To the best of our knowledge, this variant has not been reported in the published literature. The frequency of this variant in the general population, 0.000013 (3/233852 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect BRCA2 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
All of Us Research Program, National Institutes of Health RCV000113261 SCV004845257 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2023-11-30 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113261 SCV000146357 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2009-06-25 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.