chr4:55152097:CAT> Detail (hg19) (PDGFRA)

Information

Genome

Assembly Position
hg19 chr4:55,152,097-55,152,099
hg38 chr4:54,285,930-54,285,932 

HGVS

Type Transcript Protein
RefSeq NM_006206.4:c.2529_2531delCAT NP_006197.1:p.Ile843del
Ensemble ENST00000257290.10:c.2529_2531delCAT ENST00000257290.10:p.Ile843del
Summary

MGeND

Clinical significance
Variant entry
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 173490 OMIM
HGNC 8803 HGNC
Ensembl ENSG00000134853 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM4969655 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
gastrointestinal stromal tumor Imatinib D Predictive Supports Sensitivity/Response Somatic 2 14645423 Detail
gastrointestinal stromal tumor Crenolanib D Predictive Supports Sensitivity/Response Somatic 3 22745105 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
15/127 patients with KIT-WT metastatic gastrointestinal stromal tumors were tested for PDGFRA mutati... CIViC Evidence Detail
In CHO cells with the PDGFRA deletion I843 mutation that have shown imatinib sensitivity, crenolanib... 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
chr4:55,152,097-55,152,099
Variant Type
snv
Reference Allele
CAT
Alternative Allele
-
Variant (CIViC) (CIViC Variant)
I843DEL
Transcript 1 (CIViC Variant)
ENST00000257290.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/101
Summary (CIViC Variant)
PDGFRA D842 mutations are characterized broadly as imatinib resistance mutations. This is most well characterized in gastrointestinal stromal tumors, but other cell lines containing these mutations have been shown to be resistant as well. In imatinib resistant cell lines, a number of other therapeutics have demonstrated efficacy. These include; crenolanib, sirolimus, and midostaurin (PKC412).
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