Variant · Snv
TP53 H179R
CI-VAR-00001907Explore in graph →NP_000537.3:p.His179ArgNM_000546.5:c.536A>GClinVar 376606 CIViC 1082 rs1057519991
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 H179R | (functional) | Functional | D | Supports Loss Of Function | 2 | submitted | EID9444Fifty 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 H179R | (functional) | Functional | D | Supports Dominant Negative | 3 | accepted | EID10530Yeast strain yIG397 was cultured to express both wild-type (WT) and mutant H179R 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
- 2026-09-14
- 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 |
|---|---|---|---|---|---|---|---|---|
| 376606 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Li-Fraumeni syndrome; Ovarian neoplasm; Hereditary cancer-predisposing syndrome; TP53-related disorder; Li-Fraumeni syndrome 1; Uterine corpus endometrial carcinoma; Gastric cancer; Squamous cell lung carcinoma; Ovarian serous cystadenocarcinoma; Uterine carcinosarcoma; Pancreatic adenocarcinoma; Squamous cell carcinoma of the head and neck; Malignant tumor of urinary bladder; Colon adenocarcinoma; Glioma susceptibility 1; Acute myeloid leukemia; Familial cancer of breast; Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype; Medulloblastoma SHH activated and TP53 mutant; Astrocytoma IDH-mutant; Neoplasm |