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Variant (rsID / SNP)

rs200451612

CHEK2

rs200451612 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,115,403. 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
22:29115403
Cytoband
22q12.1
HGVS
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met)
Allele change
Missense_I221M

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial cancer of breast|Predisposition to cancer

Public references

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