Variant · Snv
ATM A2274T
CI-VAR-00000085Explore in graph →NP_000042.3:p.Ala2274ThrNM_000051.3:c.6820G>AClinVar 135776 CIViC 1171 rs567060474
Curated evidence
Evidence by cancer (1 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
- 23585524
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Chronic Lymphocytic Leukemia1 | ||||||||
| ATM A2274T | Doxorubicin | Predictive | D | Supports Resistance | — | submitted | EID2848In an in vitro study using primary chronic lymphocytic leukemia (CLL) cells from patients with mutated (n=8) and wildtype (n=5) ATM, inhibition of cell growth was used as an assay to determine sensiti… (full text at CIViC) PMID 23585524 · Navrkalova et al., 2013 · Open in CIViC | civic |
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 135776 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Ataxia-telangiectasia syndrome; Hereditary cancer-predisposing syndrome; Familial cancer of breast; Tip-toe gait; Hereditary breast ovarian cancer syndrome | germline | 18 | Feb 02, 2026 |