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Variant (rsID / SNP)

rs376995740

CHEK2

rs376995740 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,130,715. 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
22:29130715
Cytoband
22q12.1
HGVS
NM_007194.4(CHEK2):c.-6G>A
Allele change
Silent

Associated conditions / phenotypes

Familial cancer of breast|Hereditary cancer-predisposing 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.