Variant · Snv
TP53 R249S
CI-VAR-00003788Explore in graph →ClinVar 406598 CIViC 1696 rs28934571
Curated evidence
Evidence by cancer (6 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
- 25730903
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Malignant Neoplasm1 | ||||||||
| TP53 R249S | MDM2 Inhibitor AMGMDS3 | Predictive | D | Supports Resistance | 4 | accepted | EID4888Subset of 58 cancer cell lines with unaltered TP53 is sensitive to MDM2 Inhibitor AMGMDS3. None of 115 cancer cell lines with TP53 mutation and absence of WT allele are sensitive to MDM2 Inhibitor. TP… (full text at CIViC) PMID 25730903 · Saiki et al., 2015 · Open in CIViC | civic |
| Unmapped disease5unmapped disease | ||||||||
| TP53 R249S | (functional) | Functional | D | Supports Loss Of Function | 3 | submitted | EID7110A reporter assay in FASAY yeast strain using the ADE2 gene under control of the p-21 or RGC p53 response elements was performed to assay p53 hotspot mutation R249S transcriptional activity, with colon… (full text at 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
- 2026-09-06
- 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 |
|---|---|---|---|---|---|---|---|---|
| 406598 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Li-Fraumeni syndrome; Li-Fraumeni syndrome 1; Glioma susceptibility 1 | germline | 3 | May 04, 2026 | clinvar |