ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.273C>T (p.Tyr91=) (rs145988146)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164459 SCV000215103 likely benign Hereditary cancer-predisposing syndrome 2014-06-17 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495002 SCV000579102 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 RCV000444330 SCV000521343 likely benign not specified 2015-11-13 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 RCV000589169 SCV000694623 uncertain significance not provided 2016-10-31 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.273C>T (p.Tyr91Tyr) variant causes a synonymous change involving a non-conserved nucleotide with 5/5 splice prediction tools predict no significant impact on normal splicing and no 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 1/120478, 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, however, multiple clinical diagnostic laboratories have cited the variant as "likely benign." Therefore, the variant of interest has been classified as a "Variant of Uncertain Significance - possibly benign," until additional information becomes available.
Invitae RCV000204240 SCV000260182 likely benign Hereditary breast and ovarian cancer syndrome 2017-05-26 criteria provided, single submitter clinical testing

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