chr7:55087058:> Detail (hg19) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,087,058-55,223,523
hg38 chr7:55,019,365-55,155,830 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
brain glioma Nimotuzumab D Predictive Supports Sensitivity/Response Somatic 1 26778701 Detail
glioblastoma Gefitinib,Erlotinib B Predictive Supports Sensitivity/Response Somatic 3 16282176 Detail
high grade glioma Erlotinib D Predictive Supports Sensitivity/Response Somatic 17177598 Detail
glioblastoma Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor B Predictive Supports Sensitivity/Response Somatic 4 16282176 Detail
glioblastoma Afatinib C Predictive Supports Sensitivity/Response Somatic 2 26423602 Detail
head and neck squamous cell carcinoma Docetaxel,Cetuximab B Predictive Supports Resistance Somatic 2 21653686 Detail
glioblastoma Rindopepimut B Predictive Supports Sensitivity/Response Somatic 3 25586468 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Two human glioma cell lines (U87MG or LNZ308) overexpressing either wild-type (wt) EGFR or EGFRvIII ... CIViC Evidence Detail
Expression of EGFRvIII and PTEN was evaluated in 26 patients with glioblastomas treated with erlotin... CIViC Evidence Detail
In an in vitro study, a Ba/F3 cell line expressing EGFR vIII demonstrated increased sensitivity to e... CIViC Evidence Detail
49 patients (26 pretreatment tissues available for analysis) with recurrent glioblastomas who were t... CIViC Evidence Detail
Case report of a 58-year old patient with disease progression after radiotherapy and three temozolom... CIViC Evidence Detail
47 HNSCC patients treated with cetuximab/docetaxel were retrospectively analyzed for EGFRvIII, EGFR,... CIViC Evidence Detail
In a Phase II clinical trial, patients with Glioblastoma Multiforme (GBM), positive for EGFR VIII de... 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
chr7:55,087,058-55,223,523
Variant Type
snv
Variant (CIViC) (CIViC Variant)
VIII
Transcript 1 (CIViC Variant)
ENST00000275493.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/312
Summary (CIViC Variant)
The EGFRvIII variant is an oncogenic mutation that has been reported in several cancers including glioblastoma multiforme, breast, lung, head and neck, ovarian and prostate. In high-grade gliomas, EGFRvIII has been reported in about 30% of cases with EGFR amplification. The EGFRvIII mutation leads to deletion of the receptor ectodomain exons 2-7. The presence of this variant has been linked with clinical response to EGFR TKI. (Arteaga and Engelmann, 2014)
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