ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4670C>G (p.Thr1557Ser) (rs80358698)

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
Ambry Genetics RCV000132179 SCV000187258 benign Hereditary cancer-predisposing syndrome 2015-05-14 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031498 SCV000146466 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000132179 SCV000911090 benign Hereditary cancer-predisposing syndrome 2016-02-17 criteria provided, single submitter clinical testing
Counsyl RCV000031498 SCV000785726 likely benign Breast-ovarian cancer, familial 2 2017-11-08 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000442303 SCV000591918 uncertain significance not specified 2014-04-17 criteria provided, single submitter clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735553 SCV000863691 uncertain significance Breast and/or ovarian cancer 2012-10-01 no assertion criteria provided clinical testing
GeneDx RCV000442303 SCV000512361 likely benign not specified 2017-11-07 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 RCV000588262 SCV000694794 benign not provided 2016-03-31 criteria provided, single submitter clinical testing Variant Summary: The c.4670C>G variant in BRCA2 gene is a missense change that alters a non-conserved and 4/5 in silico tools predict benign outcome. The variant is found in the large control population dataset of ExAC at a frequency of 0.003%. This frequency does not exceed the maximal expected frequency of a pathogenic allele (0.075%), however the variant may be a rare functional polymorphism. The variant has been reported in several affected individuals without strong evidence for causality. The fact that c.4670C>G has been reported to co-occur with a different deleterious mutation in BRCA1 and BRCA2 genes including presence of another deleterious variant in trans and failed to segregate with the disease in at least one HBOC family suggests a non-disease causing nature of this variant. In addition, reputable databases/diagnostic centers listed the variant of interest with a classification of Benign/Likely Benign. Considering all evidence, the variant was classified as Benign.
Invitae RCV000044467 SCV000072480 benign Hereditary breast and ovarian cancer syndrome 2017-12-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588262 SCV000889059 likely benign not provided 2018-03-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031498 SCV000054103 benign Breast-ovarian cancer, familial 2 2012-05-01 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.