Variant · Snv
TP53 E286K
CI-VAR-00000713Explore in graph →ClinVar 183752 CIViC 915 rs786201059
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
- 11896595
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Unmapped disease1unmapped disease | ||||||||
| TP53 E286K | (functional) | Functional | D | Supports Dominant Negative | 2 | accepted | EID10270A set of previously characterized p53 mutants was tested in the yeast assay to understand their transdominant potential (dominant negative). Each mutant was expressed equally with the wild-type p53. T… (full text at CIViC) PMID 11896595 · Monti et al., 2002 · 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
- 2026-09-06
- 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 |
|---|---|---|---|---|---|---|---|---|
| 183752 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndrome 1; Vulvar adenocarcinoma of mammary gland type; Medulloblastoma WNT activated; Spindle cell sarcoma; Neoplasm | germline/somatic | 10 | Jul 03, 2025 |