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Variant (rsID / SNP)

rs137853007

CHEK2

rs137853007 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,121,242. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CHEK2Likely pathogenic
Clinical significance (as recorded)
Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
22:29121242
Cytoband
22q12.1
HGVS
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
Allele change
Missense_R145W

Associated conditions / phenotypes

Li-Fraumeni syndrome 2|Hereditary cancer-predisposing syndrome|Familial cancer of breast|CHEK2-Related Cancer Susceptibility|Li-Fraumeni syndrome|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.