Variant · Snv
KIT N822K
CI-VAR-00002961Explore in graph →NP_000213.1:p.Asn822LysNM_000222.2:c.2466T>AClinVar 375931 CIViC 1263 rs121913514
Curated evidence
Evidence by cancer (13 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
- 15650049
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Acute Myeloid Leukemia4 | ||||||||
| KIT N822K | Imatinib Mesylate | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID6958Finally, although reports suggested and our study confirmed that D816 mutations were resistant to Gleevec (26), our results clearly show that t(8;21) leukemic cells carrying N822K mC-KIT, the most fre… (full text at CIViC) PMID 15650049 · Wang et al., 2005 · Open in CIViC | civic |
| KIT N822K | Ponatinib | Predictive | D | Supports Sensitivity Response | 2 | accepted | EID7379In this preclinial trial, the AML cell line Kasumi-1 with c-KIT N822K mutation was treated with Ponatinib. This drug effectively inhibits both KIT phosphorylation and viability for Kasumi-1 cells at I… (full text at CIViC) PMID 21482694 · Gozgit et al., 2011 · Open in 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 |
|---|---|---|---|---|---|---|---|---|
| 375931 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome | germline | 3 | Jan 30, 2026 | clinvar |