ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.10203G>A (p.Thr3401=) (rs147854265)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000168621 SCV000602881 likely benign not specified 2017-03-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000164133 SCV000214748 likely benign Hereditary cancer-predisposing syndrome 2014-10-28 criteria provided, single submitter clinical testing
Color RCV000164133 SCV000683398 likely benign Hereditary cancer-predisposing syndrome 2015-11-17 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495047 SCV000579028 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 RCV000168621 SCV000167428 benign not specified 2014-03-31 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.
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000164133 SCV000803166 likely benign Hereditary cancer-predisposing syndrome 2018-05-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000168621 SCV000918997 likely benign not specified 2018-08-14 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.10203G>A alters a non-conserved nucleotide resulting in a synonymous change. 4/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 5.4e-05 in 276640 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The variant, c.10203G>A, has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Borg_2010, Stegel_2011, Davies_2017). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Invitae RCV000122898 SCV000166156 benign Hereditary breast and ovarian cancer syndrome 2017-12-26 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679151 SCV000805642 likely benign not provided 2017-03-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000168621 SCV000600456 likely benign not specified 2017-04-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679151 SCV000888973 likely benign not provided 2017-04-24 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.