ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.401A>G (p.Asn134Ser)

dbSNP: rs1595110530
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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 RCV001021670 SCV001183317 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-13 criteria provided, single submitter clinical testing The p.N134S variant (also known as c.401A>G), located in coding exon 3 of the CDK4 gene, results from an A to G substitution at nucleotide position 401. The asparagine at codon 134 is replaced by serine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001350781 SCV001545200 uncertain significance Familial melanoma 2023-08-28 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 824503). This variant has not been reported in the literature in individuals affected with CDK4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 134 of the CDK4 protein (p.Asn134Ser).

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