Variant · Snv
TP53 D281E
CI-VAR-00000464Explore in graph →NP_000537.3:p.Asp281GluNM_000546.5:c.843C>GClinVar 376587 CIViC 1044 rs1057519984
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
- 20407015
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Unmapped disease2unmapped disease | ||||||||
| TP53 D281E | (functional) | Functional | D | Supports Loss Of Function | 2 | submitted | EID9466Fifty missense mutations identified in sporadic breast cancer were assessed for qualitative and quantitative changes in their ability to transactivate from 11 human promoter response elements in a yea… (full text at CIViC) PMID 20407015 · Jordan et al., 2010 · Open in CIViC | civic |
| TP53 D281E | (functional) | Functional | D | Supports Dominant Negative | 3 | accepted | EID10260A 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 |
|---|---|---|---|---|---|---|---|---|
| 376587 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Ovarian neoplasm; Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome; Neoplasm | germline/somatic | 4 | Dec 10, 2025 | clinvar |