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Variant (rsID / SNP)

rs536907995

CHEK2

rs536907995 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,130,652. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CHEK2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
22:29130652
Cytoband
22q12.1
HGVS
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
Allele change
Nonsense_Q20X

Associated conditions / phenotypes

Familial cancer of breast|Hereditary cancer-predisposing syndrome|Familial ovarian cancer|Breast carcinoma

Public references

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