chr4:54733174:T>A Detail (hg38) (KIT)

Information

Genome

Assembly Position
hg19 chr4:55,599,340-55,599,340 View the variant detail on this assembly version.
hg38 chr4:54,733,174-54,733,174

HGVS

Type Transcript Protein
RefSeq NM_000222.2:c.2466T>A NP_000213.1:p.Asn822Lys
NM_001093772.1:c.2454T>A NP_001087241.1:p.Asn818Lys
Ensemble ENST00000288135.6:c.2466T>A ENST00000288135.6:p.Asn822Lys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 COSM1321 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic t(8;21) acute myeloid leukemia somatic MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2018-06-01 criteria provided, single submitter gastrointestinal stromal tumor somatic germline Detail
Likely pathogenic 2014-12-26 no assertion criteria provided acute myeloid leukemia somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided melanoma somatic Detail
Pathogenic 2017-03-07 criteria provided, single submitter not provided germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
cancer Imatinib D Predictive Does Not Support Sensitivity/Response Somatic 2 14645423 Detail
gastrointestinal stromal tumor Imatinib C Predictive Supports Resistance Somatic 3 16954519 Detail
gastrointestinal stromal tumor Ponatinib D Predictive Does Not Support Resistance Somatic 3 25239608 Detail
gastrointestinal stromal tumor Regorafenib D Predictive Supports Resistance Somatic 3 25239608 Detail
acute myeloid leukemia Sunitinib,Sorafenib D Predictive Does Not Support Sensitivity/Response Somatic 3 21482694 Detail
acute myeloid leukemia Ponatinib D Predictive Supports Sensitivity/Response Somatic 2 21482694 Detail
gastrointestinal stromal tumor Imatinib,Sunitinib D Predictive Supports Resistance Somatic 4 25239608 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.035 leukemia Here we studied the effects of Bacillus intermedius RNase (binase) on murine mye... BeFree 22101339 Detail
0.301 Leukemia, Myelocytic, Acute The t(8;21) Acute Myeloid Leukaemia (AML) Kasumi-1 cell line with N822K KIT muta... BeFree 20227111 Detail
<0.001 leukemia Here we studied the effects of Bacillus intermedius RNase (binase) on murine mye... BeFree 22101339 Detail
0.115 leukemia Here we studied the effects of Bacillus intermedius RNase (binase) on murine mye... BeFree 22101339 Detail
0.019 leukemia Here we studied the effects of Bacillus intermedius RNase (binase) on murine mye... BeFree 22101339 Detail
0.301 Leukemia, Myelocytic, Acute Kasumi-1 is t(8;21) acute myeloid leukemia (AML) cell line harboring mutated KIT... BeFree 16213582 Detail
<0.001 leukemia Here we studied the effects of Bacillus intermedius RNase (binase) on murine mye... BeFree 22101339 Detail
0.002 Leukemogenesis The t(8;21) Acute Myeloid Leukaemia (AML) Kasumi-1 cell line with N822K KIT muta... BeFree 20227111 Detail
Annotation

Annotations

DescrptionSourceLinks
In an in vitro study of imatinib sensitivity, KIT N822K was cloned into a plasmid by site-directed m... CIViC Evidence Detail
147 patients with advanced, unresectable GISTs were enrolled onto a randomized, phase II clinical st... CIViC Evidence Detail
A preclinical study tested the effect of a tyrosine kinase inhibitor (TKI) on Ba/F3 cell lines with ... CIViC Evidence Detail
A preclinical study tested the effects of tyrosine kinase inhibitor (TKI) on Ba/F3 cell lines with p... CIViC Evidence Detail
In a preclinical trial, the AML cell line Kasumi-1 with the KIT mutation N822K was treated with the ... CIViC Evidence Detail
In this preclinial trial, the AML cell line Kasumi-1 with c-KIT N822K mutation was treated with Pona... 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.2466T>A (p.Asn822Lys) AND Gastrointestinal stromal tumor ClinVar Detail
NM_000222.3(KIT):c.2466T>A (p.Asn822Lys) AND Acute myeloid leukemia ClinVar Detail
NM_000222.3(KIT):c.2466T>A (p.Asn822Lys) AND Melanoma ClinVar Detail
NM_000222.3(KIT):c.2466T>A (p.Asn822Lys) AND not provided ClinVar Detail
Here we studied the effects of Bacillus intermedius RNase (binase) on murine myeloid progenitor cell... DisGeNET Detail
The t(8;21) Acute Myeloid Leukaemia (AML) Kasumi-1 cell line with N822K KIT mutation, is a model sys... DisGeNET Detail
Here we studied the effects of Bacillus intermedius RNase (binase) on murine myeloid progenitor cell... DisGeNET Detail
Here we studied the effects of Bacillus intermedius RNase (binase) on murine myeloid progenitor cell... DisGeNET Detail
Here we studied the effects of Bacillus intermedius RNase (binase) on murine myeloid progenitor cell... DisGeNET Detail
Kasumi-1 is t(8;21) acute myeloid leukemia (AML) cell line harboring mutated KIT with Asn822Lys subs... DisGeNET Detail
Here we studied the effects of Bacillus intermedius RNase (binase) on murine myeloid progenitor cell... DisGeNET Detail
The t(8;21) Acute Myeloid Leukaemia (AML) Kasumi-1 cell line with N822K KIT mutation, is a model sys... 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
rs121913514 dbSNP
Genome
hg38
Position
chr4:54,733,174-54,733,174
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
N822K
Transcript 1 (CIViC Variant)
ENST00000288135.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1263
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