ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.457+5G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004952766 SCV005559329 uncertain significance Hereditary cancer-predisposing syndrome 2024-12-02 criteria provided, single submitter clinical testing The c.457+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 2 in the CDKN2A gene. Of note, this alteration is also known as c.500+5G>A in the p14(ARF) isoform. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. Based on the available evidence, the clinical significance of this variant remains unclear.

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