Variant · Snv
TP53 C238Y
CI-VAR-00000297Explore in graph →NP_000537.3:p.Cys238TyrNM_000546.5:c.713G>AClinVar 182935 CIViC 2648 rs730882005
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
- 11051239
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Malignant Breast Neoplasm1 | ||||||||
| TP53 C238Y | (prognostic) | Prognostic | E | Supports Poor Outcome | 3 | accepted | EID7173Cys-238 was directly bound to zinc molecule. Patients with missense mutations affecting amino acids directly involved in DNA or zinc binding displayed a very aggressive clinical phenotype. When patien… (full text at CIViC) PMID 11051239 · Alsner et al., 2000 · Open in CIViC | civic |
| Unmapped disease1unmapped disease | ||||||||
| TP53 C238Y | (functional) | Functional | D | Supports Dominant Negative | 2 | accepted | EID7215This study evaluated the dominant negative potential of 103 p53 germline mutations contained in the IRAC database. The C238Y variant was considered severely deficient as cotransformation with empty ve… (full text at CIViC) PMID 21343334 · | |
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
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 182935 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome; Ovarian neoplasm; Gallbladder cancer; Li-Fraumeni syndrome 1; Adrenocortical carcinoma, hereditary; Neoplasm; Hereditary breast ovarian cancer syndrome; TP53-related disorder | germline/somatic | 14 | Jan 28, 2026 |