chr4:55593669:GAT> Detail (hg19) (KIT)

Information

Genome

Assembly Position
hg19 chr4:55,593,669-55,593,671
hg38 chr4:54,727,503-54,727,505 

HGVS

Type Transcript Protein
RefSeq NM_001093772.1:c.1726_1728delGAT NP_001087241.1:p.Asp576del
NM_000222.2:c.1735_1737delGAT NP_000213.1:p.Asp579del
Ensemble ENST00000412167.7:c.1726_1728delGAT ENST00000412167.7:p.Asp576del
Summary

MGeND

Clinical significance not provided
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
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 COSM255168 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Thymic carcinoma somatic MGS000018
(TMGS000110)
Hitoshi Nakagama National Cancer Center Japan 30742731
not provided Others (Mast cell tumor) somatic MGS000018
(TMGS000110)
Hitoshi Nakagama National Cancer Center Japan 30742731
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-10-09 criteria provided, single submitter gastrointestinal stromal tumor germline Detail
Pathogenic 2021-02-23 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2022-08-09 criteria provided, single submitter not provided germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
gastrointestinal stromal tumor Imatinib C Predictive Supports Sensitivity/Response Somatic 3 14645423 Detail
gastrointestinal stromal tumor Sunitinib C Predictive Supports Resistance Somatic 2 18955458 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
This prospective study of 127 patients with metastatic gastrointestinal stromal tumors (GISTs) exami... CIViC Evidence Detail
Patient 74 from a larger cohort of genotyped patients (n= 78) with imatinib resistant or intolerant ... CIViC Evidence Detail
NM_000222.3(KIT):c.1735_1737del (p.Asp579del) AND Gastrointestinal stromal tumor ClinVar Detail
NM_000222.3(KIT):c.1735_1737del (p.Asp579del) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000222.3(KIT):c.1735_1737del (p.Asp579del) AND not provided ClinVar 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
rs1060502543 dbSNP
Genome
hg19
Position
chr4:55,593,669-55,593,671
Variant Type
snv
Reference Allele
GAT
Alternative Allele
-
Variant (CIViC) (CIViC Variant)
D579DEL
Transcript 1 (CIViC Variant)
ENST00000288135.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/977
Genome browser