ClinVar Miner

Submissions for variant NM_000075.3(CDK4):c.777G>A (p.Ser259=) (rs3211622)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569838 SCV000669086 likely benign Hereditary cancer-predisposing syndrome 2015-04-29 criteria provided, single submitter clinical testing
GeneDx RCV000422425 SCV000512542 benign not specified 2015-09-15 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 RCV000589016 SCV000695330 likely benign not provided 2016-04-11 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 tools 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 4/120492 (1/30120), which exceeds the predicted maximum expected allele frequency for a pathogenic CDK4 variant of 1/50000. However, these observations need to be cautiously considered due to the cohort including individuals that could harbor a CDK4-causing phenotype. In addition, 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 likely benign.

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