Variant (rsID / SNP)
rs28909982
rs28909982 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,121,326. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
CHEK2Pathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 22:29121326
- Cytoband
- 22q12.1
- HGVS
- NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
- Allele change
- Missense_R117G
Associated conditions / phenotypes
Hereditary 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.