chr4:55141036:T>A Detail (hg19) (PDGFRA)

Information

Genome

Assembly Position
hg19 chr4:55,141,036-55,141,036
hg38 chr4:54,274,869-54,274,869 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006206.4:c.1682T>A NP_006197.1:p.Val561Asp
Ensemble ENST00000257290.10:c.1682T>A ENST00000257290.10:p.Val561Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
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 COSM739 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2015-07-14 no assertion criteria provided gastrointestinal stromal tumor somatic Detail
Pathogenic 2007-09-01 no assertion criteria provided Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal unknown Detail
Uncertain significance no assertion criteria provided not provided unknown Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
cancer Imatinib D Predictive Does Not Support Resistance Somatic 2 14645423 Detail
gastrointestinal stromal tumor Imatinib C Predictive Supports Sensitivity/Response Somatic 1 18955451 Detail
cancer Sunitinib D Predictive Does Not Support Resistance Somatic 2 18955458 Detail
cancer Imatinib Mesylate D Predictive Does Not Support Resistance Somatic 2 18955458 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.616 Gastrointestinal Stromal Tumors NA CLINVAR Detail
0.760 Gastrointestinal Stromal Tumors Previously, we found 2 types of gain-of-function mutation of the PDGFRA gene, Va... BeFree 15221957 Detail
0.616 Gastrointestinal Stromal Tumors Previously, we found 2 types of gain-of-function mutation of the PDGFRA gene, Va... BeFree 15221957 Detail
0.616 Gastrointestinal Stromal Tumors The patient was found to carry a germline PDGFRA mutation (V561D) in the heteroz... BeFree 17566086 Detail
<0.001 Neuroendocrine Tumors Multiple GISTs and other tumors may be caused by germline PDGFRA gene mutations;... BeFree 17566086 Detail
Annotation

Annotations

DescrptionSourceLinks
In an in vitro study of imatinib sensitivity, PDGFRA V561D was cloned into a plasmid by site-directe... CIViC Evidence Detail
This case study examines one patient from a larger cohort of 397 patients with incurable (i.e. metas... CIViC Evidence Detail
In an in vitro study, Chinese hamster ovary cells expressing PDGFRA V561D mutation demonstrated sens... CIViC Evidence Detail
In an in vitro study, Chinese hamster ovary cells expressing PDGFRA V561D mutation demonstrated sens... CIViC Evidence Detail
NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp) AND Gastrointestinal stromal tumor ClinVar Detail
NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp) AND Polyps, multiple and recurrent inflammatory fibroid,... ClinVar Detail
NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp) AND not provided ClinVar Detail
NA DisGeNET Detail
Previously, we found 2 types of gain-of-function mutation of the PDGFRA gene, Val561 to Asp and Asp8... DisGeNET Detail
Previously, we found 2 types of gain-of-function mutation of the PDGFRA gene, Val561 to Asp and Asp8... DisGeNET Detail
The patient was found to carry a germline PDGFRA mutation (V561D) in the heterozygote state; it has ... DisGeNET Detail
Multiple GISTs and other tumors may be caused by germline PDGFRA gene mutations; the V561D mutation ... DisGeNET 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
rs121908586 dbSNP
Genome
hg19
Position
chr4:55,141,036-55,141,036
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
V561D
Transcript 1 (CIViC Variant)
ENST00000257290.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/941
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