chr4:55593613:TTG> Detail (hg19) (KIT)

Information

Genome

Assembly Position
hg19 chr4:55,593,613-55,593,615
hg38 chr4:54,727,447-54,727,449 

HGVS

Type Transcript Protein
RefSeq NM_000222.2:c.1679_1681delTTG NP_000213.1:p.Val560del
NM_001093772.1:c.1670_1672delTTG NP_001087241.1:p.Val557del
Ensemble ENST00000288135.6:c.1679_1681delTTG ENST00000288135.6:p.Val560del
Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 COSM1258 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000082
(TMGS000165)
Kenjiro Kosaki
Kenjiro Kosaki
Keio University
Mutation View
not provided small intestine, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
thymic carcinoma Imatinib C Predictive Supports Sensitivity/Response Somatic 5 15201427 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In a patient with thymic carcinoma, the tumor expressing an activating mutation in exon 11 of KIT (V... 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
hg19
Position
chr4:55,593,613-55,593,615
Variant Type
snv
Reference Allele
TTG
Alternative Allele
-
Variant (CIViC) (CIViC Variant)
V560DEL
Transcript 1 (CIViC Variant)
ENST00000288135.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/202
Summary (CIViC Variant)
V560 Resides within the Juxtamembrane domain on exon 11 of KIT. In melanoma this region is one 4 hotspots and is the 3rd highest recurrently mutated region. Mouse models have shown that mutations in this hotspot lead to constitutive phosphorylation of KIT which will induce a stronger activation of the PI3K pathway however it is currently unknown if deletions follow the same model. Case studies in Gastrointestinal Stromal Tumors with V560DEL have reported a sensitivity when treated with imatinib and regorafenib.
Variant (CIViC) (CIViC Variant)
V559DEL
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/966
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