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Variant (rsID / SNP)

rs17883862

CHEK2

rs17883862 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,130,456. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CHEK2Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
22:29130456
Cytoband
22q12.1
HGVS
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
Allele change
Missense_P85L

Associated conditions / phenotypes

Bone osteosarcoma|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Malignant tumor of breast|Breast and/or ovarian cancer|Hereditary breast ovarian cancer syndrome

Public references

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