ClinVar Miner

Submissions for variant NM_058195.4(CDKN2A):c.-2A>T

gnomAD frequency: 0.00001  dbSNP: rs764949869
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698240 SCV000527172 likely benign not provided 2019-08-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436299 SCV002748619 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-22 criteria provided, single submitter clinical testing The c.-2A>T variant is located in the 5' untranslated region (5’ UTR) of the CDKN2A (p14ARF) gene. This variant results from an A to T substitution 2 nucleotides upstream from the first translated codon. This nucleotide position is poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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