Variant · Snv
EGFR A289V
CI-VAR-00000089Explore in graph →NP_005219.2:p.Ala289ValNM_005228.4:c.866C>TClinVar 376209 CIViC 996 rs149840192
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
- 17177598
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| High-Grade Glioma, NOS1 | ||||||||
| EGFR A289V | Erlotinib | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID4188In an in vitro study, a Ba/F3 cell line expressing EGFR A289V demonstrated increased sensitivity to erlotinib treatment, compared to Ba/F3 cells expressing EGFR wild-type. Variant function was assesse… (full text at CIViC) PMID 17177598 · Lee et al., 2006 · Open in CIViC | civic |
| Unmapped disease1unmapped disease | ||||||||
| EGFR A289V | (functional) | Functional | D | Supports Gain Of Function | 4 | submitted | EID10069In an in vitro study, EGFR ectodomain missense mutants (T263P, A289V, G598V, L861Q) were expressed in human immortalized astrocytes and BaF3 cells. Phosphorylation was measured via immunoblot. All ect… (full text at CIViC) PMID 17177598 · | |
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 |
|---|---|---|---|---|---|---|---|---|
| 376209 | - | - | — | Neoplasm; Diffuse midline glioma, H3 K27M-mutant; IDH-wildtype glioblastoma; Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype | somatic | 2 | — | clinvar |