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Gene entry

POLE

DNA polymerase epsilon, catalytic subunit

Chromosome
12
Cytoband
12q24.33
Variants (rsID)
64

POLE is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q24.33). Its official name is “DNA polymerase epsilon, catalytic subunit”. The reference table lists 64 variants (rsID) for this gene.

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Clinically classified variants

53 reference-table entries with clinical significance.

  • rs142373951Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to, 12|Carcinoma of colon
  • rs145427269Benignsingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome
  • rs34047482Benignsingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome|Carcinoma of colon
  • rs5744760Benignsingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome|Polymerase proofreading-related adenomatous polyposis
  • rs5744934Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to, 12|Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency|Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
  • rs5744936Benignsingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome|Carcinoma of colon
  • rs5744944Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to, 12|Facial dysmorphism-immunodeficiency-livedo-short stature syndrome|Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
  • rs5745066Benignsingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome
  • rs5745068Benignsingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome
  • rs61732929Benignsingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome|Carcinoma of colon
  • rs1057524549Conflicting interpretationssingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome
  • rs113594027Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to, 12
  • rs114119067Conflicting interpretationssingle nucleotide variantColorectal cancer, susceptibility to, 12|Facial dysmorphism-immunodeficiency-livedo-short stature syndrome|Hereditary cancer-predisposing syndrome
  • rs115193764Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to, 12|Carcinoma of colon
  • rs115452881Conflicting interpretationssingle nucleotide variantColorectal cancer, susceptibility to, 12|Familial colorectal cancer|Hereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to, 12|Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
  • rs115455318Conflicting interpretationssingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome
  • rs115558715Conflicting interpretationssingle nucleotide variantFamilial colorectal cancer|Colorectal cancer, susceptibility to, 12
  • rs137860861Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to, 12
  • rs138207610Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to, 12|Colorectal cancer|Facial dysmorphism-immunodeficiency-livedo-short stature syndrome|Familial colorectal cancer
  • rs139075637Conflicting interpretationssingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome|Colorectal cancer|Familial colorectal cancer
  • rs140566004Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial colorectal cancer|Colorectal cancer, susceptibility to, 12|Malignant tumor of breast
  • rs141619382Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to, 12|Polymerase proofreading-related adenomatous polyposis
  • rs142508245Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial colorectal cancer|Colorectal cancer, susceptibility to, 12|Carcinoma of colon|Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
  • rs143626223Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial colorectal cancer|Colorectal cancer, susceptibility to, 12|Carcinoma of colon
  • rs145621558Conflicting interpretationssingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome|Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
  • rs147692158Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial colorectal cancer|Colorectal cancer, susceptibility to, 12|Malignant tumor of breast
  • rs149462407Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to, 12|Carcinoma of colon
  • rs200080353Conflicting interpretationssingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome
  • rs200398117Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to, 12
  • rs201738371Conflicting interpretationssingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome|Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
  • rs202220778Conflicting interpretationssingle nucleotide variantColorectal cancer|Colorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome|Carcinoma of colon
  • rs36120395Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial colorectal cancer|Colorectal cancer, susceptibility to, 12
  • rs367970442Conflicting interpretationssingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome|Familial colorectal cancer
  • rs368662693Conflicting interpretationssingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome
  • rs369152225Conflicting interpretationssingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome
  • rs372459649Conflicting interpretationssingle nucleotide variantColorectal cancer, susceptibility to, 12|Carcinoma of colon
  • rs372901803Conflicting interpretationssingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome
  • rs375209004Conflicting interpretationssingle nucleotide variantColorectal cancer, susceptibility to, 12
  • rs531482240Conflicting interpretationssingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome
  • rs536917758Conflicting interpretationssingle nucleotide variantColorectal cancer, susceptibility to, 12
  • rs5744933Conflicting interpretationssingle nucleotide variantCarcinoma of colon|Colorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome
  • rs5744948Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to, 12
  • rs752682384Conflicting interpretationsMicrosatelliteColorectal cancer, susceptibility to, 12
  • rs770466844Conflicting interpretationssingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome
  • rs774747998Conflicting interpretationssingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome
  • rs991583405Conflicting interpretationssingle nucleotide variantColorectal cancer, susceptibility to, 12
  • rs116742454Likely benignsingle nucleotide variantColorectal cancer, susceptibility to, 12
  • rs751448342Likely benignsingle nucleotide variantColorectal cancer, susceptibility to, 12
  • rs483352909Pathogenicsingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome|Colorectal cancer, susceptibility to, 12|Facial dysmorphism-immunodeficiency-livedo-short stature syndrome|Cystic fibrosis-gastritis-megaloblastic anemia syndrome
  • rs115786159Uncertain significancesingle nucleotide variantColorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome
  • rs138391248Uncertain significancesingle nucleotide variantColorectal cancer, susceptibility to, 12
  • rs199979862Uncertain significancesingle nucleotide variantColorectal cancer, susceptibility to, 12
  • rs774425403Uncertain significancesingle nucleotide variantColorectal cancer, susceptibility to, 12

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.