chr4:54727416:> Detail (hg38) (KIT)

Information

Genome

Assembly Position
hg19 chr4:55,593,582-55,593,708 
hg38 chr4:54,727,416-54,727,542

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
melanoma Sunitinib C Predictive Supports Sensitivity/Response Somatic 3 22261812 Detail
gastrointestinal stromal tumor B Diagnostic Supports Positive Somatic 2 10485475 Detail
gastrointestinal stromal tumor Imatinib B Predictive Supports Sensitivity/Response Somatic 4 18955451 Detail
malignant anus melanoma Imatinib C Predictive Supports Sensitivity/Response Somatic 3 18421059 Detail
gastrointestinal stromal tumor B Prognostic Does Not Support N/A Somatic 3 12000708 Detail
lung cancer B Prognostic Does Not Support N/A Somatic 2 15217946 Detail
gastrointestinal stromal tumor B Prognostic Supports Poor Outcome Somatic 3 10485475 Detail
gastrointestinal stromal tumor Sunitinib B Predictive Supports Resistance Somatic 3 18955458 Detail
gastrointestinal stromal tumor Regorafenib B Predictive Supports Sensitivity/Response Somatic 2 23177515 Detail
gastrointestinal stromal tumor Regorafenib B Predictive Supports Sensitivity/Response Somatic 2 22614970 Detail
gastrointestinal stromal tumor B Prognostic Does Not Support N/A Somatic 3 16551858 Detail
melanoma Imatinib B Predictive Supports Sensitivity/Response Somatic 3 23775962 Detail
gastrointestinal stromal tumor Regorafenib B Predictive Supports Sensitivity/Response Somatic 3 27371698 Detail
gastrointestinal stromal tumor Imatinib B Predictive Supports Sensitivity/Response Somatic 4 14645423 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
10 melanoma patients were evaluated after sunitinib treatment, among which 3 out of the 4 patients w... CIViC Evidence Detail
KIT mutation is associated with larger, more invasive tumors, greater pathologic histology and older... CIViC Evidence Detail
This prospective study of 397 patients with incurable (i.e. metastatic or unresectable) CD117-positi... CIViC Evidence Detail
In a case study, a patient with anal melanoma harboring a 7 codon duplication in the juxtamambrane r... CIViC Evidence Detail
KIT mutations were identified in morphologically benign, incidentally discovered GISTs at a rate sim... CIViC Evidence Detail
KIT mutations detected in 5/60 patients showed no prognostic significance in patients with small cel... CIViC Evidence Detail
KIT mutation is associated with worse overall and cause-specific prognosis in patients with GIST com... CIViC Evidence Detail
In a phase I/II trial of sunitinib efficacy on imatinib resistant or intolerant gastrointestinal str... CIViC Evidence Detail
This international, placebo controlled prospective phase 3 clinical trial (NCT01271712) examined saf... CIViC Evidence Detail
This retrospective study of a phase 2 clinical trial (NCT01068769) examined regorafenib safety and e... CIViC Evidence Detail
There is no significant association between wildtype KIT or KIT mutations in exon 9 or 11 in surviva... CIViC Evidence Detail
Melanoma patients with KIT mutation but not KIT amplification showed response to imatinib treatment ... CIViC Evidence Detail
This phase II clinical trial of regorafenib (NCT01068769) examined the long term safety and efficacy... CIViC Evidence Detail
This prospective study of 127 pretreatment patients with metastatic gastrointestinal stromal tumors ... 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
chr4:54,727,416-54,727,542
Variant Type
snv
Variant (CIViC) (CIViC Variant)
EXON 11 MUTATION
Transcript 1 (CIViC Variant)
ENST00000288135.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/66
Summary (CIViC Variant)
c-KIT mutations in exon 11 lie within the juxtamembrane domain, and are very recurrent in gastrointestinal stromal tumors, often bearing a poorer prognosis than other KIT mutations. Cells harboring exon 11 mutations have shown sensitivity to the tyrosine kinase inhibitor imatinib, offering a better prognosis to patients treated with the drug in the first year. Small cohorts of melanoma patients harboring exon 11 KIT mutations have shown response to imatinib and sunitinib.
Variant (CIViC) (CIViC Variant)
INTERNAL DUPLICATION
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/67
Summary (CIViC Variant)
c-KIT internal duplications have been observed in exon 11, within the juxtamembrane domain. In a case study of an anal melanoma patient harboring this event, imatinib confered marked response. Also, cells harboring exon 11 mutations have shown sensitivity to the tyrosine kinase inhibitor imatinib, offering a better prognosis to patients treated with the drug in the first year.
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