Variant
TP53 R249
CI-VAR-00003786Explore in graph →ClinVar 376015 CIViC 119 rs587782329
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
- 9569050
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Malignant Breast Neoplasm1 | ||||||||
| TP53 R249 | Doxorubicin | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID399Breast tumors with R175H or R249 mutations are more responsive to doxorubicin than breast tumors with wild type TP53. PMID 9569050 · Berns et al., 1998 · Open in CIViC | civic |
| Unmapped disease1unmapped disease | ||||||||
| TP53 R249 | (functional) | Functional | D | Supports Loss Of Function | 4 | submitted | EID7340A library of P53 mutant vectors and wt control was packaged to lentivirus and infected into p53-null H1299 cells at a concentration yielding 1 integration per cell. Relative abundance of each transcri… (full text at CIViC) PMID 29979965 · Kotler et al., 2018 · | |
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
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 376015 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1 | germline | 3 | Feb 16, 2024 | clinvar |