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Gene entry

CDKN2A

cyclin dependent kinase inhibitor 2A

Chromosome
9
Cytoband
9p21.3
Variants (rsID)
36

CDKN2A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9p21.3). Its official name is “cyclin dependent kinase inhibitor 2A”. The reference table lists 36 variants (rsID) for this gene.

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Clinically classified variants

30 reference-table entries with clinical significance.

  • rs116150891Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Melanoma-pancreatic cancer syndrome|Familial melanoma
  • rs3731249Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Melanoma-pancreatic cancer syndrome|Familial melanoma
  • rs1060504181Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial melanoma
  • rs121913381Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Neoplasm|Familial melanoma
  • rs137854599Conflicting interpretationssingle nucleotide variantMelanoma, cutaneous malignant, susceptibility to, 2|Familial melanoma|Hereditary cancer-predisposing syndrome
  • rs199907548Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial melanoma|Melanoma-pancreatic cancer syndrome|Osteoblastic osteosarcoma|Melanoma and neural system tumor syndrome|Melanoma and neural system tumor syndrome|Melanoma-pancreatic cancer syndrome
  • rs372670098Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial melanoma
  • rs374984975Conflicting interpretationssingle nucleotide variantFamilial melanoma|Hereditary cancer-predisposing syndrome
  • rs45456595Conflicting interpretationssingle nucleotide variantFamilial melanoma|Melanoma-pancreatic cancer syndrome|Melanoma, cutaneous malignant, susceptibility to, 2|Hereditary cancer-predisposing syndrome
  • rs529380972Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Melanoma-pancreatic cancer syndrome|Familial melanoma|Hepatocellular carcinoma
  • rs546300971Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial melanoma
  • rs587782792Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial melanoma
  • rs6413463Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Melanoma-pancreatic cancer syndrome|Melanoma, cutaneous malignant, susceptibility to, 2|Familial melanoma
  • rs764244718Conflicting interpretationssingle nucleotide variantFamilial melanoma|Melanoma-pancreatic cancer syndrome|Hereditary cancer-predisposing syndrome
  • rs878853648Conflicting interpretationssingle nucleotide variantFamilial melanoma|Hereditary cancer-predisposing syndrome
  • rs749714198Likely pathogenicsingle nucleotide variantFamilial melanoma|Hereditary cancer-predisposing syndrome|Melanoma-pancreatic cancer syndrome
  • rs104894094Pathogenicsingle nucleotide variantMelanoma-pancreatic cancer syndrome|Melanoma, cutaneous malignant, susceptibility to, 2|Hereditary cancer-predisposing syndrome|Familial melanoma|Melanoma|Inborn genetic diseases
  • rs104894095Pathogenicsingle nucleotide variantMelanoma, cutaneous malignant, susceptibility to, 2|Hereditary cancer-predisposing syndrome|Familial melanoma
  • rs104894097Pathogenicsingle nucleotide variantMelanoma, cutaneous malignant, susceptibility to, 2|Hereditary cancer-predisposing syndrome|Melanoma-pancreatic cancer syndrome|Familial melanoma|Melanoma and neural system tumor syndrome|Melanoma-pancreatic cancer syndrome|Melanoma, cutaneous malignant, susceptibility to, 2
  • rs104894098Pathogenicsingle nucleotide variantMelanoma, cutaneous malignant, susceptibility to, 2|Hereditary cancer-predisposing syndrome|Familial melanoma|Melanoma-pancreatic cancer syndrome
  • rs104894099Pathogenicsingle nucleotide variantMelanoma, cutaneous malignant, susceptibility to, 2|Melanoma-pancreatic cancer syndrome|Hereditary cancer-predisposing syndrome|Familial melanoma
  • rs1060501262Pathogenicsingle nucleotide variantFamilial melanoma|Melanoma, cutaneous malignant, susceptibility to, 2
  • rs121913388Pathogenicsingle nucleotide variantMelanoma, cutaneous malignant, susceptibility to, 2|Melanoma|Hereditary cancer-predisposing syndrome|Lip and oral cavity carcinoma
  • rs45476696Pathogenicsingle nucleotide variantFamilial melanoma|Hereditary cancer-predisposing syndrome|Melanoma-pancreatic cancer syndrome
  • rs730881675PathogenicDeletionHereditary cancer-predisposing syndrome|Familial melanoma|Melanoma-pancreatic cancer syndrome
  • rs768966657PathogenicDuplicationHereditary cancer-predisposing syndrome|Familial melanoma
  • rs864622263Pathogenicsingle nucleotide variantFamilial melanoma|Hereditary cancer-predisposing syndrome
  • rs864622636Pathogenicsingle nucleotide variantFamilial melanoma|Hereditary cancer-predisposing syndrome
  • rs372266620Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Familial melanoma
  • rs587778189Uncertain significancesingle nucleotide variantFamilial melanoma

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.