ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.880dup (p.Tyr294fs)

dbSNP: rs1302362629
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985665 SCV001134098 uncertain significance not provided 2022-11-11 criteria provided, single submitter clinical testing This frameshift variant alters the translational reading frame of the CDK4 mRNA and is predicted to cause the premature termination of CDK4 protein synthesis. The variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Based on the available information, we are unable to determine the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001858625 SCV002226261 uncertain significance Familial melanoma 2022-07-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr294Leufs*4) in the CDK4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 10 amino acid(s) of the CDK4 protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 801143). This variant has not been reported in the literature in individuals affected with CDK4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%).

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