Variant · Indel
MBD4 Frameshift
CI-VAR-00001156Explore in graph →CIViC 2812
Curated evidence
Evidence by cancer (1 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
- 29760383
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Uveal Melanoma1 | ||||||||
| MBD4 Frameshift | PD1 Inhibitor | Predictive | C | Supports Sensitivity Response | 4 | submitted | EID7596In a cohort of 42 metastatic uveal melanoma patients treated with PD-1 inhibition, only one responded. A germline frameshift mutation in MBD4 was identified in this responder patient, with somatic los… (full text at CIViC) PMID 29760383 · Rodrigues et al., 2018 · Open in CIViC | civic |
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