ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3213T>C (p.His1071=) (rs863224304)

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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 RCV000567401 SCV000668519 likely benign Hereditary cancer-predisposing syndrome 2015-08-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000567401 SCV000688792 likely benign Hereditary cancer-predisposing syndrome 2017-08-14 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000494993 SCV000578521 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/).
Integrated Genetics/Laboratory Corporation of America RCV000589916 SCV000694675 uncertain significance not provided 2016-04-14 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 not observed in controls (ExAC, 1000 Gs or ESP), nor has it been, to our knowledge, reported in affected individuals via publications. The variant of interest has been cited by a clinical laboratory 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 RCV000197968 SCV000253007 likely benign Hereditary breast and ovarian cancer syndrome 2015-04-18 criteria provided, single submitter clinical testing

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