ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.132_143dup (p.Gly45_Gly48dup)

dbSNP: rs749094206
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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 RCV001047782 SCV001211762 uncertain significance Familial melanoma 2022-07-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CDK4-related conditions. ClinVar contains an entry for this variant (Variation ID: 844832). 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. This variant is not present in population databases (gnomAD no frequency). This variant, c.132_143dup, results in the insertion of 4 amino acid(s) of the CDK4 protein (p.Gly45_Gly48dup), but otherwise preserves the integrity of the reading frame.
Ambry Genetics RCV002379530 SCV002694840 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-30 criteria provided, single submitter clinical testing The c.132_143dup12 variant (also known as p.G45_G48dup), located in coding exon 1 of the CDK4 gene, results from an in-frame duplication of 12 nucleotides at nucleotide positions 132 to 143. This results in the duplication of 4 extra residues (GGGG) between codons 45 and 48. This amino acid region is not well conserved in available vertebrate species. In addition, this alteration is predicted to be inconclusive by in silico analysis (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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