CHEK2 · rs587780169
Where this position leads
Condition: Hereditary Cancer-predisposing Syndrome
Strength of the evidence
ClinVar classifies it as disease-causing (or likely), reviewed at 2 of 4 stars.
4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.
What ClinVar records
Classification
Pathogenic for Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary breast ovarian cancer syndrome; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2024-07-18.
ClinVar record 818508 NM_007194.4(CHEK2):c.1180G>T (p.Glu394Ter)
Classification
Conflicting classifications of pathogenicity for Hereditary cancer-predisposing syndrome, Familial cancer of breast, Malignant tumor of breast, Hereditary breast ovarian cancer syndrome, Bone osteosarcoma and 2 more; criteria provided, conflicting classifications (1 of 4 stars, 14 submitters), last evaluated 2025-12-20.
ClinVar record 128048 NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys)
Classification
Uncertain significance for Hereditary cancer-predisposing syndrome; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2022-03-16.
ClinVar record 1742182 NM_007194.4(CHEK2):c.1180G>C (p.Glu394Gln)
Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.
What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.
Source: ClinVar VCV000818508, criteria provided, multiple submitters, no conflicts
rs587780169 is a single position in the genome, in or near the CHEK2 gene. Published research associates it with hereditary cancer-predisposing syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
On MyGeneLog this position is linked to Hereditary Cancer-predisposing Syndrome. The research behind each link, and its sources, are set out on that condition page.
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
ClinVar VCV000818508, criteria provided, multiple submitters, no conflicts. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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Hereditary cancer-predisposing syndrome (rs587780169). MyGeneLog™. https://www.mygenelog.com/variants/rs587780169