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Variant (rsID / SNP)

rs121908701

CHEK2

rs121908701 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,121,015. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CHEK2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:29121015
Cytoband
22q12.1
HGVS
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
Allele change
Missense_R181H

Associated conditions / phenotypes

Prostate 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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.