ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.135_143dup (p.Gly46_Gly48dup)

dbSNP: rs1595111045
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002042868 SCV002291929 uncertain significance Familial melanoma 2021-01-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CDK4-related conditions. This variant, c.135_143dup, results in the insertion of 3 amino acid(s) to the CDK4 protein (p.Gly46_Gly48dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV003170533 SCV003870470 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-18 criteria provided, single submitter clinical testing The c.135_143dupTGGAGGAGG variant (also known as p.G46_G48dup), located in coding exon 1 of the CDK4 gene, results from an in-frame duplication of TGGAGGAGG at nucleotide positions 135 to 143. This results in the duplication of 3 extra residues (GGG) between codons 46 and 48. This amino acid region is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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