Variant · Snv
TP53 R248W
CI-VAR-00003785Explore in graph →NP_000537.3:p.Arg248TrpNM_000546.5:c.742C>TClinVar 12347 CIViC 118 rs121912651
Curated evidence
Evidence by cancer (4 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
- 16489069
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Malignant Breast Neoplasm1 | ||||||||
| TP53 R248W | (prognostic) | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID392In breast cancer patients harboring R248W mutation, the prognosis is worse than any other hotspot TP53 mutation, as well as worse than patients with wild type TP53. PMID 16489069 · Olivier et al., 2006 · Open in CIViC | civic |
| Malignant Neoplasm2 | ||||||||
| TP53 R248W | (oncogenic) | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID7120Human mutant R248W p53 was stably transfected into the murine fibroblast (10)3 and human osteosarcoma SAOS-2 cell lines, which lack endogenous p53 expression, resulting in viable cells. In contrast, p… (full text at CIViC) PMID 8099841 · Dittmer et al., 1993 · Open in 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 |
|---|---|---|---|---|---|---|---|---|
| 12347 | Pathogenic | reviewed by expert panel | 3 | Li-Fraumeni syndrome 1; Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; Neoplasm; Ovarian neoplasm; Lip and oral cavity carcinoma; Choroid plexus carcinoma; Gallbladder cancer; Congenital fibrosarcoma; Breast and/or ovarian cancer; Gastric cancer; Malignant lymphoma, large B-cell, diffuse; Adrenocortical carcinoma, hereditary; TP53-related disorder; Familial pancreatic carcinoma; Colorectal cancer; Breast phyllodes tumor; Medulloblastoma SHH activated and TP53 mutant; Diffuse glioma, H3 G34 mutant; Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |