Variant · Snv
BRAF D594G
CI-VAR-00000510Explore in graph →NP_004324.2:p.Asp594GlyNM_004333.4:c.1781A>GClinVar 13972 CIViC 611 rs121913338
Curated evidence
Evidence by cancer (11 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
- 21641636
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Colorectal Adenocarcinoma1 | ||||||||
| NOT KRAS Mutation AND ( BRAF V600E OR BRAF D594G ) | Cetuximab + ChemotherapyCombination | Predictive | B | Does Not Support Sensitivity Response | 3 | submitted | EID11060The Medical Research Council (MRC) COIN trial consisted of patients with histologically confirmed adenocarcinoma of the colon or rectum, inoperable metastatic or locoregional measurable disease, and w… (full text at CIViC) PMID 21641636 · Maughan et al., 2011 · Open in CIViC | civic |
| Cutaneous Melanoma2 | ||||||||
| BRAF D594G | Sorafenib | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID6001In this preclinical study, melanoma cell lines harboring the kinase-dead G469E- and D594G mutations were identified. These cell lines were resitant to MEK-Inhibition but underwent apoptosis after shRN… | |
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 |
|---|---|---|---|---|---|---|---|---|
| 13972 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Non-Hodgkin lymphoma; Non-small cell lung carcinoma; Lung adenocarcinoma; RASopathy; Neoplasm; Ganglioglioma | germline/somatic | 7 | Jun 14, 2025 | clinvar |