ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.355-3T>C

gnomAD frequency: 0.00001  dbSNP: rs771392563
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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 RCV001060290 SCV001224967 uncertain significance Familial melanoma 2024-04-29 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the CDK4 gene. It does not directly change the encoded amino acid sequence of the CDK4 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs771392563, gnomAD 0.0009%). 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: 855106). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Myriad Genetics, Inc. RCV004789392 SCV005405585 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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