ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1797T>C (p.Asn599=)

gnomAD frequency: 0.00001  dbSNP: rs756211343
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) RCV000494763 SCV000578409 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 RCV000163811 SCV000214395 likely benign Hereditary cancer-predisposing syndrome 2016-06-10 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.
GeneDx RCV000417993 SCV000519563 likely benign not specified 2016-07-28 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.
Invitae RCV000460951 SCV000560215 likely benign Hereditary breast ovarian cancer syndrome 2024-01-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163811 SCV000682985 likely benign Hereditary cancer-predisposing syndrome 2017-01-12 criteria provided, single submitter clinical testing
Counsyl RCV000494763 SCV000785090 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2017-04-11 criteria provided, single submitter clinical testing
Mendelics RCV000494763 SCV001140595 benign Breast-ovarian cancer, familial, susceptibility to, 1 2019-05-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800479 SCV002047277 likely benign not provided 2020-12-23 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.