ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4614T>C (p.Ser1538=) (rs45520945)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 13
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163297 SCV000213825 likely benign Hereditary cancer-predisposing syndrome 2014-07-24 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113325 SCV000146457 uncertain significance Breast-ovarian cancer, familial 2 2007-01-18 no assertion criteria provided clinical testing
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency RCV000195330 SCV000586953 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-04-14 no assertion criteria provided clinical testing
Color RCV000163297 SCV000683636 benign Hereditary cancer-predisposing syndrome 2015-11-30 criteria provided, single submitter clinical testing
Counsyl RCV000113325 SCV000221069 likely benign Breast-ovarian cancer, familial 2 2015-01-22 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000044453 SCV000591914 benign not specified 2012-11-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000586489 SCV000225174 uncertain significance not provided 2014-11-13 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113325 SCV000578948 likely benign Breast-ovarian cancer, familial 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 RCV000044453 SCV000167367 benign not specified 2014-02-05 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.
Integrated Genetics/Laboratory Corporation of America RCV000586489 SCV000694787 likely benign not provided 2016-03-31 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.4614T>C variant affects a conserved nucleotide, resulting in no amino acid change. Mutation Taster predicts a damaging outcome for this variant; however 5/5 Alamut algorithms predict no significant change to splicing. These in silico predictions have not been verified with in vivo/vitro functional studies. This variant was found in 14/120462 control chromosomes at a frequency of 0.0001162, which does not significantly exceed maximal expected frequency of a pathogenic BRCA2 allele (0.0007503). UMD reports the variant of interest to co-occur with pathogenic BRCA2 variants in 2 individuals (c.1327G>T [p.Glu443X] and c.658_659delGT [p.Val220IlefsX4]) and classifies the variant as "1 - Neutral." In addition, multiple clinical laboratories classified this variant as benign/likely benign, without evidence to independently evaluate. Taken together, this variant was classified as likely benign until additional information is available.
Invitae RCV000195330 SCV000072466 benign Hereditary breast and ovarian cancer syndrome 2018-01-04 criteria provided, single submitter clinical testing
PreventionGenetics RCV000586489 SCV000805710 likely benign not provided 2017-06-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586489 SCV000889054 benign not provided 2018-06-04 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.