chr4:54285926:ACATC>TCATG Detail (hg38) (PDGFRA)

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Information

Genome

Assembly	Position
hg19	chr4:55,152,093-55,152,097 View the variant detail on this assembly version.
hg38	chr4:54,285,926-54,285,930

Type	Transcript	Protein
RefSeq	NM_006206.4:c.2525_2529delinsTCATG	NP_006197.1:p.Asp842_Ile843delinsValMet
Ensemble	ENST00000257290.10:c.2525_2529delinsTCATG	ENST00000257290.10:p.Asp842_Ile843delinsValMet

Summary

[No Data.]

Links

Type	Database	ID	Link
Gene	MIM	173490	OMIM
	HGNC	8803	HGNC
	Ensembl	ENSG00000134853	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

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	Crenolanib	D	Predictive	Supports	Sensitivity/Response	Somatic	4	22745105	Detail

DisGeNET

[No Data.]

Annotation

Descrption	Source	Links
In CHO cells with PDGFRA DI842-843VM mutation that have shown imatinib resistance, crenolanib was si...	CIViC Evidence	Detail

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg38
Position: chr4:54,285,926-54,285,930
Variant Type: snv
Reference Allele: ACATC
Alternative Allele: TCATG
Variant (CIViC) (CIViC Variant): DI842-843VM
Transcript 1 (CIViC Variant): ENST00000257290.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/102
Summary (CIViC Variant): PDGFRA D842 mutations are characterized broadly as imatinib resistance mutations. The DI842-843VM variant is the result of a double point mutation. 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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