ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.708T>C (p.His236=) (rs185506536)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163130 SCV000213643 likely benign Hereditary cancer-predisposing syndrome 2014-10-08 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000735601 SCV000324850 likely benign Breast and/or ovarian cancer 2016-02-19 criteria provided, single submitter clinical testing
Color RCV000163130 SCV000683850 likely benign Hereditary cancer-predisposing syndrome 2016-07-18 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495426 SCV000579132 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/).
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735601 SCV000863739 uncertain significance Breast and/or ovarian cancer 2014-05-26 no assertion criteria provided clinical testing
GeneDx RCV000436215 SCV000515798 benign not specified 2015-04-15 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.
Genetic Services Laboratory, University of Chicago RCV000436215 SCV000593699 likely benign not specified 2016-02-25 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587408 SCV000695037 uncertain significance not provided 2016-04-15 criteria provided, single submitter clinical testing Variant summary: The variant of interest causes a synonymous change involving a non-conserved nucleotide with 5/5 in silico programs via Alamut predicting no significant effect on splicing, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 4/111358 (1/27839), predominantly in the East Asian cohort, 4/8076 (1/2018), which does not exceed the predicted maximum expected allele frequency for a pathogenic BRCA2 variant of 1/1333. The variant of interest, to our knowledge, has not been reported in affected individuals via publications. However, multiple reputable clinical laboratories have cited the variant with a classification of "likely benign." Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as a "VUS-possibly benign," until additional information becomes available.
Invitae RCV000205806 SCV000261849 likely benign Hereditary breast and ovarian cancer syndrome 2017-09-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000436215 SCV000600733 likely benign not specified 2017-04-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587408 SCV000887900 likely benign not provided 2018-08-08 criteria provided, single submitter clinical testing

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