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: 3
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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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001439244 SCV001642129 likely benign Familial melanoma 2025-01-31 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004787945 SCV005404158 likely benign Melanoma, cutaneous malignant, susceptibility to, 3 2024-09-25 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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