Variant · Snv
TP53 R282W
CI-VAR-00003812Explore in graph →NP_000537.3:p.Arg282TrpNM_000546.5:c.844C>TClinVar 12364 CIViC 916 rs28934574
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
- 31395785
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Unmapped disease2unmapped disease | ||||||||
| TP53 R282W | (functional) | Functional | D | Does Not Support Neomorphic | 3 | accepted | EID7531The R282W mutation was used to create isogenic AML cell lines using MOLM13 and K526 lines. R282W/- cells showed resistance to chemotherapeutic agents and failure to induce p21, indicating disruption o… (full text at CIViC) PMID 31395785 · Boettcher et al., 2019 · Open in CIViC | civic |
| TP53 R282W | (functional) | Functional | D | Does Not Support Dominant Negative | 3 | submitted | EID10580Yeast strain yIG397 was cultured to express both wild-type (WT) and mutant R282W originally identified in breast cancer. Should the mutant be dominant-negative (DN), TP53 will not bind and transactiva… (full text at CIViC) PMID 10519380 · Marutani et al., 1999 · 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
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 12364 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Li-fraumeni-like syndrome; Li-Fraumeni syndrome 1; Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome; Squamous cell carcinoma of the head and neck; Astrocytoma, anaplastic; Pleomorphic xanthoastrocytoma; Ovarian neoplasm; Colorectal cancer; Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype; Neoplasm; Adrenocortical carcinoma, hereditary; TP53-related disorder; Melanoma; Low grade glioma; Astrocytoma IDH-mutant; Diffuse midline glioma, H3 K27M-mutant; Medulloblastoma WNT activated; Juvenile type testicular granulosa cell tumor; Rhabdomyosarcoma; Diffuse glioma, H3 G34 mutant; Signet ring cell carcinoma |