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Gene entry

CHEK2

checkpoint kinase 2

Chromosome
22
Cytoband
22q12.1
Variants (rsID)
57

CHEK2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 22 (region 22q12.1). Its official name is “checkpoint kinase 2”. The reference table lists 57 variants (rsID) for this gene.

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Clinically classified variants

45 reference-table entries with clinical significance.

  • rs17883862Benignsingle nucleotide variantBone osteosarcoma|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Malignant tumor of breast|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome
  • rs1057522400Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs121908700Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|CHEK2-Related Cancer Susceptibility|Li-Fraumeni syndrome 2|Familial cancer of breast|Breast and/or ovarian cancer
  • rs121908701Conflicting interpretationssingle nucleotide variantProstate cancer, somatic|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Malignant tumor of prostate|Li-Fraumeni syndrome 2|Familial cancer of breast|Bone osteosarcoma|Hereditary breast ovarian cancer syndrome|CHEK2-Related Cancer Susceptibility|Malignant tumor of breast|Li-Fraumeni syndrome 2|Breast and/or ovarian cancer
  • rs121908710Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of breast
  • rs137853009Conflicting interpretationssingle nucleotide variantProstate cancer, somatic|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Malignant tumor of breast
  • rs137853011Conflicting interpretationssingle nucleotide variantBreast cancer, susceptibility to|Hereditary cancer-predisposing syndrome|Breast and colorectal cancer, susceptibility to|Familial cancer of breast|Colorectal cancer|Breast neoplasm|Malignant tumor of prostate|Li-Fraumeni syndrome 2|Familial cancer of breast|Bone osteosarcoma|Hereditary breast ovarian cancer syndrome|CHEK2-Related Cancer Susceptibility|CHEK2-related cancer risk|Malignant tumor of breast
  • rs141568342Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Breast and colorectal cancer, susceptibility to|Familial cancer of breast|CHEK2-Related Cancer Susceptibility|Breast and/or ovarian cancer|Malignant tumor of breast|Hereditary breast ovarian cancer syndrome
  • rs145183886Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|CHEK2-Related Cancer Susceptibility
  • rs17879961Conflicting interpretationssingle nucleotide variantLi-Fraumeni syndrome 2|Colorectal cancer, susceptibility to|Prostate cancer, susceptibility to|Cancer of multiple types, susceptibility to|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Breast and colorectal cancer, susceptibility to|Adrenal cortex carcinoma|Gastrointestinal carcinoma|Colon cancer, susceptibility to|Breast cancer, susceptibility to|Malignant tumor of breast|CHEK2-Related Cancer Susceptibility|Breast and/or ovarian cancer|Malignant tumor of prostate|Li-Fraumeni syndrome 2|Familial cancer of breast|Bone osteosarcoma|Predisposition to cancer
  • rs199715101Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs200451612Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Predisposition to cancer
  • rs200917541Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|CHEK2-Related Cancer Susceptibility|Familial cancer of breast
  • rs28909980Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs376995740Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Malignant tumor of breast
  • rs587780188Conflicting interpretationssingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs587781367Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs587782471Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Hereditary breast ovarian cancer syndrome|Li-Fraumeni syndrome 2|Familial cancer of breast|Hereditary breast ovarian cancer syndrome
  • rs72552322Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Breast and colorectal cancer, susceptibility to|Breast carcinoma|Predisposition to cancer
  • rs748005072Conflicting interpretationsDeletionHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs749156425Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|CHEK2-Related Cancer Susceptibility|Familial cancer of breast
  • rs77130927Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Malignant tumor of prostate|Hereditary breast ovarian cancer syndrome|CHEK2-Related Cancer Susceptibility|Breast and/or ovarian cancer
  • rs786203977Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs1060504693Likely benignsingle nucleotide variantFamilial cancer of breast
  • rs786201796Likely benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Malignant tumor of breast
  • rs1057517596Likely pathogenicDeletionFamilial cancer of breast
  • rs137853007Likely pathogenicsingle nucleotide variantLi-Fraumeni syndrome 2|Hereditary cancer-predisposing syndrome|Familial cancer of breast|CHEK2-Related Cancer Susceptibility|Li-Fraumeni syndrome|Malignant tumor of breast
  • rs768172525Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs864622613Likely pathogenicsingle nucleotide variantFamilial cancer of breast
  • rs121908698Pathogenicsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs121908702Pathogenicsingle nucleotide variantProstate cancer, somatic|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Colorectal cancer
  • rs28909982Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|Breast cancer, susceptibility to|Prostate cancer, susceptibility to|Malignant tumor of breast|Hereditary breast ovarian cancer syndrome|Predisposition to cancer|CHEK2-Related Cancer Susceptibility|Li-Fraumeni syndrome 2|Breast and/or ovarian cancer
  • rs536907995Pathogenicsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome|Familial ovarian cancer|Breast carcinoma
  • rs587780184PathogenicDuplicationHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs760502479Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs768384031Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs778989252Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs786202601PathogenicDeletionHereditary cancer-predisposing syndrome|Familial cancer of breast|Li-Fraumeni syndrome
  • rs864622149Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Familial cancer of breast|CHEK2-Related Cancer Susceptibility
  • rs864622453PathogenicDuplicationFamilial cancer of breast
  • rs876659639PathogenicDeletionHereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs886039629Pathogenicsingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome
  • rs886039731PathogenicDeletionFamilial cancer of breast|Hereditary breast ovarian cancer syndrome
  • rs137853010Uncertain significancesingle nucleotide variantProstate cancer, somatic|Hereditary cancer-predisposing syndrome|Familial cancer of breast
  • rs765425451Uncertain significancesingle nucleotide variantFamilial cancer of breast|Hereditary cancer-predisposing syndrome

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.