ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9649-19G>A

gnomAD frequency: 0.00047  dbSNP: rs11571830
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 20
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) RCV000114144 SCV000245312 benign Breast-ovarian cancer, familial, susceptibility to, 2 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01748 (Asian), derived from 1000 genomes (2012-04-30).
Labcorp Genetics (formerly Invitae), Labcorp RCV000045877 SCV000073890 benign Hereditary breast ovarian cancer syndrome 2024-02-01 criteria provided, single submitter clinical testing
Counsyl RCV000114144 SCV000154052 benign Breast-ovarian cancer, familial, susceptibility to, 2 2014-01-02 criteria provided, single submitter literature only
GeneDx RCV000124015 SCV000167421 benign not specified 2013-10-29 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.
Michigan Medical Genetics Laboratories, University of Michigan RCV000114144 SCV000267831 benign Breast-ovarian cancer, familial, susceptibility to, 2 2016-04-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV000461516 SCV000541043 benign Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000124015 SCV000592300 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000124015 SCV000602835 benign not specified 2016-12-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000579840 SCV000684080 benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
GeneKor MSA RCV000124015 SCV000693647 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000114144 SCV000743527 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2017-07-28 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000114144 SCV000744790 benign Breast-ovarian cancer, familial, susceptibility to, 2 2015-09-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000124015 SCV000805798 benign not specified 2017-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000579840 SCV002694192 benign Hereditary cancer-predisposing syndrome 2014-11-19 criteria provided, single submitter clinical testing This alteration is classified as 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000124015 SCV002760741 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149695 SCV003838183 benign Breast and/or ovarian cancer 2022-04-29 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000114144 SCV000147688 benign Breast-ovarian cancer, familial, susceptibility to, 2 1999-04-12 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000124015 SCV001799044 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000124015 SCV001906098 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723636 SCV001955397 likely benign not provided 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.