Variant · Snv
TP53 C242F
CI-VAR-00000298Explore in graph →NP_000537.3:p.Cys242PheNM_000546.5:c.725G>TClinVar 376578 CIViC 1062 rs121912655
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 C242F | (functional) | Functional | D | Supports Loss Of Function | 2 | accepted | EID9451Fifty 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 C242F | (functional) | Functional | D | Supports Loss Of Function | 3 | submitted | EID13191In matched biopsy and surgical specimens from a patient with lung squamous cell carcinoma, split FASAY identified TP53 C242F (codon 242 TGC>TTC). The mutant-containing 3′ fragment from the biopsy samp… (full text at CIViC) PMID 15161705 · Fouquet et al., 2004 · 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 |
|---|---|---|---|---|---|---|---|---|
| 376578 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Ovarian neoplasm; Li-Fraumeni syndrome; Hereditary cancer-predisposing syndrome; Neoplasm | germline/somatic | 4 | Dec 14, 2025 | clinvar |