ClinVar Miner

Submissions for variant NM_000075.4(CDK4):c.-2G>A (rs771607042)

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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 RCV000217430 SCV000275726 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-18 criteria provided, single submitter clinical testing The c.-2G>A variant located in the 5' untranslated region (5’ UTR) of the CDK4 gene. This variant results from a G to A substitution 2 bases upstream from the first translated codon. This nucleotide position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV000679201 SCV000572305 uncertain significance not provided 2016-11-18 criteria provided, single submitter clinical testing This variant is denoted CDK4 c.-2G>A and describes a nucleotide substitution 2 bases upstream of the ATG translational start site of the CDK4 gene. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. However, the substitution occurs in the Kozak sequence, the conserved nucleotides just upstream of the ATG start codon, which play a major role in the initiation of translation. CDK4 c.-2G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Based on currently available evidence, it is unclear whether CDK4 c.-2G>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
PreventionGenetics,PreventionGenetics RCV000679201 SCV000805805 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing

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