Variant · Snv
ERCC2 N238S
CI-VAR-00002888Explore in graph →CIViC 3281
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
- 25636205
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Bladder Carcinoma1 | ||||||||
| ERCC2 N238S | Chemotherapy | Predictive | C | Does Not Support Sensitivity Response | 2 | submitted | EID11505Variant found in patients that were diagnosed with muscle-invasive bladder cancer in pretreatment transurethral resection tumor samples (Supplementary Table 4; Patients ID: CF0949, CF0982, CF3098). Th… (full text at CIViC) PMID 25636205 · Groenendijk et al., 2016 · Open in CIViC | civic |
| Unmapped disease1unmapped disease | ||||||||
| ERCC2 N238S | (functional) | Functional | D | Supports Loss Of Function | 2 | submitted | EID9132Mutations in the nucleotide excision repair (NER) gene ERCC2 have been associated with response to cisplatin. The variant N238S lies in a highly conserved helicase domain and was shown to drastically … (full text at CIViC) PMID · | |
ClinVar
Clinical significance (0)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
Data not yet available