ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8154T>C (p.Ile2718=) (rs148880015)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000124006 SCV000602825 benign not specified 2016-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163230 SCV000213755 likely benign Hereditary cancer-predisposing syndrome 2014-06-19 criteria provided, single submitter clinical testing
Color RCV000163230 SCV000683947 likely benign Hereditary cancer-predisposing syndrome 2015-11-17 criteria provided, single submitter clinical testing
Counsyl RCV000411296 SCV000488735 likely benign Breast-ovarian cancer, familial 2 2016-06-01 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000411296 SCV000579177 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 RCV000124006 SCV000167407 benign not specified 2014-05-09 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 RCV000586776 SCV000695131 uncertain significance not provided 2016-12-30 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.8154T>C (p.Ile2718Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide, which 5/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts minor alterations to ESE binding, 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 7/121398 (1/17343), predominantly in the African cohort, 7/10402 (1/1486), which does not exceed the estimated maximal expected allele frequency for a pathogenic BRCA2 variant of 1/1333. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, although multiple clinical diagnostic laboratories have cited the variant with a classification of "benign" without evidence for an independent evaluation. Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance - possibly benign."
Invitae RCV000196416 SCV000252614 benign Hereditary breast and ovarian cancer syndrome 2017-12-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000586776 SCV000887931 likely benign not provided 2017-10-30 criteria provided, single submitter clinical testing

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