chr4:55595519:C>T Detail (hg19) (KIT)

Information

Genome

Assembly Position
hg19 chr4:55,595,519-55,595,519
hg38 chr4:54,729,353-54,729,353 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001093772.1:c.2000C>T NP_001087241.1:p.Thr667Ile
NM_000222.2:c.2009C>T NP_000213.1:p.Thr670Ile
Ensemble ENST00000412167.7:c.2000C>T ENST00000412167.7:p.Thr667Ile
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 164920 OMIM
HGNC 6342 HGNC
Ensembl ENSG00000157404 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM12708 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided stomach, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-01-17 criteria provided, single submitter gastrointestinal stromal tumor germline somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
gastrointestinal stromal tumor Imatinib C Predictive Supports Resistance Somatic 3 16954519 Detail
gastrointestinal stromal tumor Regorafenib D Predictive Supports Resistance Somatic 4 25239608 Detail
gastrointestinal stromal tumor Imatinib D Predictive Supports Resistance Somatic 5 25239608 Detail
gastrointestinal stromal tumor Sunitinib,Ponatinib D Predictive Does Not Support Resistance Somatic 5 25239608 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.760 Gastrointestinal Stromal Tumors Herein, by introducing adaptive elements into the inhibitor core structure, we u... BeFree 23773153 Detail
0.007 Myeloid Leukemia, Chronic Herein, by introducing adaptive elements into the inhibitor core structure, we u... BeFree 23773153 Detail
0.760 Gastrointestinal Stromal Tumors The reported mechanism of imatinib resistance in GISTs involves missense mutatio... BeFree 15946589 Detail
<0.001 Gastrointestinal Neoplasms The KIT/FLT3 inhibitor SU-11248 potently inhibits the imatinib-resistant KIT(V55... BeFree 16046538 Detail
Annotation

Annotations

DescrptionSourceLinks
147 patients with advanced, unresectable GISTs were enrolled onto a randomized, phase II clinical st... CIViC Evidence Detail
A preclinical study tested the effects of a tyrosine kinase inhibitor (TKI) on Ba/F3 cell lines with... CIViC Evidence Detail
A preclinical study tested the effects of a tyrosine kinase inhibitor (TKI) on Ba/F3 cell lines with... CIViC Evidence Detail
Several preclinical studies tested the effects of various tyrosine kinase inhibitors (TKIs) on Ba/F3... CIViC Evidence Detail
NM_000222.3(KIT):c.2009C>T (p.Thr670Ile) AND Gastrointestinal stromal tumor ClinVar Detail
Herein, by introducing adaptive elements into the inhibitor core structure, we undertake the structu... DisGeNET Detail
Herein, by introducing adaptive elements into the inhibitor core structure, we undertake the structu... DisGeNET Detail
The reported mechanism of imatinib resistance in GISTs involves missense mutation in the kinase doma... DisGeNET Detail
The KIT/FLT3 inhibitor SU-11248 potently inhibits the imatinib-resistant KIT(V559D/T670I) kinase, co... DisGeNET 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
-
dbSNP
rs121913516 dbSNP
Genome
hg19
Position
chr4:55,595,519-55,595,519
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
T670I
Transcript 1 (CIViC Variant)
ENST00000288135.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1267
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