Variant · Snv
CHEK2 R474C c.1420C>T
CI-VAR-00003860Explore in graph →CIViC 2959
Curated evidence
Evidence by cancer (2 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 27900359
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Malignant Neoplasm1 | ||||||||
| CHEK2 R474C c.1420C>T | (predisposing) | Predisposing | C | Supports Predisposition | 3 | accepted | EID7962Siblings (brother and sister) each were diagnosed with multiple primary lung cancer at the age of 60, along with various other cancers in their lifetimes. Homozygosity mapping revealed their parents (… (full text at CIViC) PMID 27900359 · Kukita et al., 2016 · Open in CIViC | civic |
| Unmapped disease1unmapped disease | ||||||||
| CHEK2 R474C c.1420C>T | (functional) | Functional | D | Supports Loss Of Function | 3 | submitted | EID10064NIH3T3 cells were transfected with mutant (R474C) or wild-type (WT) CHEK2. Expression and phosphorylation of CHEK2 was measured following UV light exposure to include DNA damage. The mutant was poorly… (full text at CIViC) PMID 27900359 · | |
ClinVar
Clinical significance (0)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
Data not yet available