ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9222A>G (p.Leu3074=) (rs200635661)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163923 SCV000214518 likely benign Hereditary cancer-predisposing syndrome 2015-02-09 criteria provided, single submitter clinical testing
Color RCV000163923 SCV000684036 likely benign Hereditary cancer-predisposing syndrome 2016-11-07 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495621 SCV000578849 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 RCV000614169 SCV000730934 likely benign not specified 2017-08-31 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.
Integrated Genetics/Laboratory Corporation of America RCV000588610 SCV000695218 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9222A>G (p.Leu3074Leu) variant causes a synonymous change involving a non-conserved nucleotide, which 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may alter ESE binding. However, these predictions have yet to be confirmed by functional studies. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 3/121124, predominantly in the Latino cohort, 3/11548 (1/3849), does not exceed the estimated maximal expected allele frequency for a pathogenic BRCA2 variant of 1/1333. The variant of interest has not been, to our knowledge, reported in affected individuals via publications, although multiple clinical diagnostic laboratories have classified the variant as "likely benign." Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance - Possibley Benign."
Invitae RCV000204698 SCV000262276 likely benign Hereditary breast and ovarian cancer syndrome 2017-08-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588610 SCV000889176 likely benign not provided 2018-05-14 criteria provided, single submitter clinical testing

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