Variant · Snv
TP53 G245D
CI-VAR-00001674Explore in graph →NP_000537.3:p.Gly245AspNM_000546.5:c.734G>AClinVar 12355 CIViC 1036 rs121912656
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
- 11896595
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Unmapped disease2unmapped disease | ||||||||
| TP53 G245D | (functional) | Functional | D | Supports Dominant Negative | 3 | accepted | EID10254A 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 |
| TP53 G245D | (functional) | Functional | D | Supports Dominant Negative | 3 | submitted | EID10533Yeast strain yIG397 was cultured to express both wild-type (WT) and mutant G245D originally identified in an oral lesion. Should the mutant be dominant-negative (DN), TP53 will not bind and transactiv… (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
- 2026-09-06
- 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 |
|---|---|---|---|---|---|---|---|---|
| 12355 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; Ovarian neoplasm; Embryonal rhabdomyosarcoma; Adrenocortical carcinoma, hereditary; Astrocytoma IDH-mutant; Diffuse midline glioma, H3 K27M-mutant | germline/somatic | 12 | May 22, 2025 |