ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.219-5G>C

gnomAD frequency: 0.00001  dbSNP: rs1286893141
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568666 SCV000669152 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-08 criteria provided, single submitter clinical testing The c.219-5G>C intronic variant results from a G to C substitution 5 nucleotides upstream from coding exon 2 in the CDK4 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001439244 SCV001642129 likely benign Familial melanoma 2023-08-11 criteria provided, single submitter clinical testing

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