Variant · Snv
ALK G1128A
CI-VAR-00001573Explore in graph →NP_001340694.1:p.Gly60AlaNM_001353765.1:c.179G>CClinVar 18084 CIViC 2798 rs113994088
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
- 18724359
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Neuroblastoma2 | ||||||||
| ALK G1128A | (predisposing) | Predisposing | B | Supports Predisposition | 4 | rejected | EID7568A genome-wide scan of single nucleotide polymorphisms in twenty neuroblastoma families identified the ALK gene as being disease linked. Sequencing of ALK exons identified 3 mutations, including G1128A… (full text at CIViC) PMID 18724359 · Mossé et al., 2008 · Open in CIViC | civic |
| ALK G1128A | (predisposing) | Predisposing | B | Supports Predisposition | 4 | submitted | EID7570A genome-wide scan of single nucleotide polymorphisms in twenty neuroblastoma families identified the ALK gene as being disease linked. Sequencing of ALK exons identified 3 mutations, including G1128A… (full text at CIViC) PMID 18724359 · Mossé et al., 2008 · 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
- 2026-09-06
- 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 |
|---|---|---|---|---|---|---|---|---|
| 18084 | Pathogenic; risk factor | no assertion criteria provided | 0 | Neuroblastoma, susceptibility to, 3; Neuroblastoma | germline/somatic | 4 | Oct 07, 2015 | clinvar |