Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Asn823Lys (p.N823K)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687246.1,
ENST00000687109.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1 )
KIT p.Asn823Lys (p.N823K) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 ) - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- CIViC Evidence
- Description
- A preclinical study tested the effect of a tyrosine kinase inhibitor (TKI) on Ba/F3 cell lines with primary ponatinib-sensitizing del 557-558 mutation, which induced IL-3 independent growth, and secondary mutation N822K. The cells were tested for Ponatinib resistance. Ba/F3 cells with del 557-558 and N822K mutations did not show resistance towards Ponatinib (IC50 for growth inhibition: 3 nM) compared to Ba/F3 cells with del 557-558 alone (IC50: 3 nM). Ponatinib inhibited KIT phosphorylation at moderate concentrations. The results suggest that N822K does not induce Ponatinib resistance.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4167
- Gene URL
- https://civic.genome.wustl.edu/links/genes/29
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1263
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Gastrointestinal Stromal Tumor
- Evidence Direction
- Does Not Support
- Drug
- Ponatinib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 25239608
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Ponatinib | Resitance or Non-Reponse | false |