Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs137853011

CHEK2

rs137853011 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,091,207. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CHEK2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:29091207
Cytoband
22q12.1
HGVS
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
Allele change
Missense_S428F

Associated conditions / phenotypes

Breast 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

Public references

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