ClinVar Miner

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

dbSNP: rs1057519881
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Total submissions: 10
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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.
Database of Curated Mutations (DoCM) RCV000434118 SCV000505874 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442368 SCV000505875 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000427609 SCV000505876 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433507 SCV000505877 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442465 SCV000505878 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426834 SCV000505879 likely pathogenic Squamous cell carcinoma of the skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000437058 SCV000505880 likely pathogenic Gastric adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418529 SCV000505881 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only

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