ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8505A>G (p.Ser2835=) (rs765655952)

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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 RCV000576110 SCV000665223 likely benign Hereditary cancer-predisposing syndrome 2016-08-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000576110 SCV000689132 likely benign Hereditary cancer-predisposing syndrome 2017-07-25 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000426342 SCV000592205 likely benign not specified 2012-08-09 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495331 SCV000579017 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 RCV000426342 SCV000526972 likely benign not specified 2017-05-19 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 RCV000589247 SCV000695161 uncertain significance not provided 2016-03-28 criteria provided, single submitter clinical testing Variant Summary: The variant of interest causes a synonymous change involving a non-conserved nucleotide with 4/5 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 observed in the large, broad control population, ExAC, with an allele frequency of 2/121304 (1/60652), which does not exceed the predicted maximum expected allele frequency for a pathogenic BRCA2 variant of 1/1333. The variant of interest, to our knowledge, has not been reported in affected individuals via publications and/or reputable databases/clinical laboratories. 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 RCV000461995 SCV000560469 likely benign Hereditary breast and ovarian cancer syndrome 2017-11-01 criteria provided, single submitter clinical testing

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