chr4:54285925:G>T Detail (hg38) (PDGFRA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:55,152,092-55,152,092 View the variant detail on this assembly version. |
| hg38 | chr4:54,285,925-54,285,925 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006206.4:c.2524G>T | NP_006197.1:p.Asp842Tyr |
| Ensemble | ENST00000257290.10:c.2524G>T | ENST00000257290.10:p.Asp842Tyr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2016-03-10 | no assertion criteria provided | gastrointestinal stromal tumor |
somatic
|
Detail |
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
Annotations
| Descrption | Source | Links |
|---|---|---|
| In CHO cells with PDGFRA D842Y mutation that have shown imatinib resistance, crenolanib was signific... | CIViC Evidence | Detail |
| NM_006206.6(PDGFRA):c.2524G>T (p.Asp842Tyr) AND Gastrointestinal stromal tumor | 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
- rs121913265 dbSNP
- Genome
- hg38
- Position
- chr4:54,285,925-54,285,925
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- D842Y
- Transcript 1 (CIViC Variant)
- ENST00000257290.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/100
- 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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