Variant (rsID / SNP)

rs886039731

rs886039731 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,099,541. 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: Deletion
Chromosome / position: 22:29099541
Cytoband: 22q12.1
HGVS: NM_007194.4(CHEK2):c.860del (p.Lys287fs)

Associated conditions / phenotypes

Familial cancer of breast|Hereditary breast ovarian cancer syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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