ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.248A>G (p.His83Arg)

dbSNP: rs1057519881
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Molecular Diagnostics, Institute of Oncology Ljubljana RCV001310110 SCV001499644 pathogenic Melanoma-pancreatic cancer syndrome 2020-04-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429346 SCV002740465 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-14 criteria provided, single submitter clinical testing The p.H83R variant (also known as c.248A>G), located in coding exon 2 of the CDKN2A gene, results from an A to G substitution at nucleotide position 248. The histidine at codon 83 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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