chr4:54725857:> Detail (hg38) (KIT)

Information

Genome

Assembly Position
hg19 chr4:55,592,023-55,592,216 
hg38 chr4:54,725,857-54,726,050

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
gastrointestinal stromal tumor Imatinib B Predictive Supports Sensitivity/Response Somatic 4 16624552 Detail
gastrointestinal stromal tumor Sunitinib B Predictive Supports Sensitivity/Response Somatic 3 22439647 Detail
gastrointestinal stromal tumor Sunitinib B Predictive Supports Sensitivity/Response Somatic 3 18955458 Detail
gastrointestinal stromal tumor Imatinib B Predictive Supports Sensitivity/Response Somatic 3 14645423 Detail
gastrointestinal stromal tumor Imatinib B Predictive Supports Reduced Sensitivity Somatic 2 18955451 Detail
gastrointestinal stromal tumor Regorafenib C Predictive Supports Reduced Sensitivity Somatic 3 27371698 Detail
gastrointestinal stromal tumor Regorafenib B Predictive Supports Reduced Sensitivity Somatic 2 22614970 Detail
gastrointestinal stromal tumor Regorafenib B Predictive Supports Sensitivity/Response Somatic 2 23177515 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In a phase III clinical trial comparing different doses of imatinib in GIST patients, KIT exon 9 mut... CIViC Evidence Detail
Primary tumor genotyping of 89 patients with metastatic GIST given 2nd-line sunitinib treatment afte... CIViC Evidence Detail
In a study of 78 patients with gastrointestinal stromal tumors treated with sunitinib, patients with... CIViC Evidence Detail
This prospective study of 127 patients with metastatic gastrointestinal stromal tumors (GISTs) exami... CIViC Evidence Detail
This prospective study of 397 patients with incurable (i.e. metastatic or unresectable) CD117-positi... CIViC Evidence Detail
This phase II clinical trial of regorafenib (NCT01068769) examined the long term safety and efficacy... CIViC Evidence Detail
This retrospective study of a phase 2 clinical trial (NCT01068769) examined regorafenib safety and e... CIViC Evidence Detail
This international, placebo controlled prospective phase 3 clinical trial (NCT01271712) examined saf... CIViC Evidence Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr4:54,725,857-54,726,050
Variant Type
snv
Variant (CIViC) (CIViC Variant)
EXON 9 MUTATION
Transcript 1 (CIViC Variant)
ENST00000288135.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/509
Summary (CIViC Variant)
In patients with gastrointestinal stromal tumors (GIST), imatinib has improved outcomes for patients with KIT mutations. However, acquired resistance to imatinib is common. Patients harboring exon 9 KIT mutations may benefit from higher imatinib doses (800mg/daily). Similarly, imatinib-refractory tumors showed sensitivity to sunitinib treatment. Improved responses to either treatment were not observed in patients with exon 11 mutations.
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