ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6054T>C (p.Ser2018=) (rs540799830)

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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 RCV000568503 SCV000665396 likely benign Hereditary cancer-predisposing syndrome 2017-08-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000568503 SCV000906125 likely benign Hereditary cancer-predisposing syndrome 2018-07-24 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000495356 SCV000744481 likely benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495356 SCV000579203 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/).
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000495356 SCV000743315 likely benign Breast-ovarian cancer, familial 2 2017-07-28 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590789 SCV000694930 uncertain significance not provided 2017-01-13 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.6054T>C (p.Ser2018Ser) variant causes a synonymous change involving a conserved nucleotide, which 3/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts 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 1/120602, 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. A clinical diagnostic laboratory and a reputable database classifies 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 - Possibly Benign."
Invitae RCV000206693 SCV000260897 likely benign Hereditary breast and ovarian cancer syndrome 2017-08-15 criteria provided, single submitter clinical testing

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