ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9468A>G (p.Gln3156=) (rs753503094)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575688 SCV000666070 likely benign Hereditary cancer-predisposing syndrome 2016-07-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495049 SCV000579045 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/).
Integrated Genetics/Laboratory Corporation of America RCV000589274 SCV000695244 uncertain significance not provided 2016-05-16 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9468A>G (p.Gln3156Gln) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation Taster predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 1/121294 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. The c.9468A>G variant co-occurred in one internal sample with pathogenic BRCA1 variant (c.2685_2686delAA). Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000460998 SCV000560384 likely benign Hereditary breast and ovarian cancer syndrome 2016-11-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589274 SCV000887965 likely benign not provided 2018-01-30 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.