Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs587782471

CHEK2

rs587782471 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,107,982. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CHEK2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
22:29107982
Cytoband
22q12.1
HGVS
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)
Allele change
Missense_L236P

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial cancer of breast|Hereditary breast ovarian cancer syndrome|Li-Fraumeni syndrome 2|Familial cancer of breast|Hereditary breast ovarian cancer syndrome

Public references

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