ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6290C>T (p.Thr2097Met) (rs80358866)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131379 SCV000186355 likely benign Hereditary cancer-predisposing syndrome 2018-01-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,In silico models in agreement (benign)
Breast Cancer Information Core (BIC) (BRCA2) RCV000031613 SCV000146810 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000131379 SCV000683767 likely benign Hereditary cancer-predisposing syndrome 2015-11-17 criteria provided, single submitter clinical testing
Counsyl RCV000031613 SCV000786119 uncertain significance Breast-ovarian cancer, familial 2 2018-02-27 criteria provided, single submitter clinical testing
GeneDx RCV000423925 SCV000512379 likely benign not specified 2017-12-06 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 RCV000588166 SCV000694957 uncertain significance not provided 2017-01-06 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6290C>T (p.Thr2097Met) variant involves the alteration of a not conserved nucleotide. 3/5 in silico tools predict a damaging outcome for this variant. This variant was found in 14/120042 control chromosomes at a frequency of 0.0001166, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). The variant of interest has been reported in affected individuals via publications, although with limited information (ie lack of co-occurrence and co-segregation data). A reputable database, BIC, cites the variant to co-occur with another potentially pathogenic BRCA2 variant, c.714_7415delAA (P.Lys2472Valfs). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as "likely benign/benign and one other lab classified it as uncertain significance, all without evidence to independently evaluate. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000044889 SCV000072902 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-23 criteria provided, single submitter clinical testing
Mendelics RCV000044889 SCV000838836 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000588166 SCV000805737 uncertain significance not provided 2017-03-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588166 SCV000889098 likely benign not provided 2018-03-17 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031613 SCV000054220 benign Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing
True Health Diagnostics RCV000131379 SCV000805245 likely benign Hereditary cancer-predisposing syndrome 2018-04-09 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.