Variant (rsID / SNP)
rs17879961
rs17879961 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,121,087. Clinical significance in the table: Conflicting interpretations of pathogenicity; risk factor.
Reference-table entries
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity; risk factor
- Variant type
- single nucleotide variant
- Chromosome / position
- 22:29121087
- Cytoband
- 22q12.1
- HGVS
- NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
- Allele change
- Missense_I157T
Associated conditions / phenotypes
Li-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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.