Variant · Snv
ATM R1575H
CI-VAR-00003677Explore in graph →NP_000042.3:p.Arg1575HisNM_000051.3:c.4724G>AClinVar 181960 CIViC 1170 rs550552791
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 R1575H | Doxorubicin | Predictive | D | Supports Resistance | — | submitted | EID2847In 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 |
|---|---|---|---|---|---|---|---|---|
| 181960 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia syndrome; Familial cancer of breast; Hereditary breast ovarian cancer syndrome; Familial colorectal cancer type X; ATM-related cancer predisposition | germline | 20 | Apr 21, 2026 |