ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7341T>C (p.Asn2447=) (rs4986858)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000581004 SCV000683867 likely benign Hereditary cancer-predisposing syndrome 2015-04-25 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495383 SCV000579100 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;
GeneDx RCV000417809 SCV000520087 likely benign not specified 2017-11-01 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 RCV000590500 SCV000695056 uncertain significance not provided 2016-09-15 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 a large, broad control population, ExAC, with an allele frequency of 1/121158, which does not exceed the maximum expected allele frequency for a pathogenic BRCA2 variant of 1/1333. The variant of interest was not reported in affected individuals, to our knowledge via publications and/or reputable databases/clinical laboratories. Although, an internal LCA sample reports this variant to co-occur with a potentially pathogenic PMS2 variant, c.2186_2187delTC (p.Leu729fsX6 - classified likely pathogenic). 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 RCV000524979 SCV000635567 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-25 criteria provided, single submitter clinical testing

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