ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.126AGG[2] (p.Gly48del) (rs770784286)

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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 RCV000217499 SCV000275906 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-30 criteria provided, single submitter clinical testing The c.132_134delAGG variant (also known as p.G48del) is located in coding exon 1 of the CDK4 gene. This variant results from an in-frame AGG deletion at nucleotide positions 132 to 134. This results in the in-frame deletion of a glycine at codon 48. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Counsyl RCV000410742 SCV000489018 uncertain significance Cutaneous malignant melanoma 3 2016-08-01 criteria provided, single submitter clinical testing
Invitae RCV001234960 SCV001407623 uncertain significance Hereditary melanoma 2020-08-14 criteria provided, single submitter clinical testing This variant, c.132_134del, results in the deletion of 1 amino acid(s) of the CDK4 protein (p.Gly48del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs770784286, ExAC 0.006%). This variant has not been reported in the literature in individuals with CDK4-related conditions. ClinVar contains an entry for this variant (Variation ID: 231912). Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) 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.

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