EGFR EXON 19 DELETION Detail (hg38) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,242,415-55,242,513 View the variant detail on this assembly version.
hg38 chr7:55,174,722-55,174,820
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 131550 OMIM
HGNC 3236 HGNC
Ensembl ENSG00000146648 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung non-small cell carcinoma Gefitinib B Predictive Supports Sensitivity/Response Somatic 3 18509184 Detail
lung adenocarcinoma Gefitinib B Predictive Supports Sensitivity/Response Somatic 3 22370314 Detail
lung non-small cell carcinoma Gefitinib D Predictive Supports Sensitivity/Response Somatic 4 16730237 Detail
lung non-small cell carcinoma Erlotinib A Predictive Supports Sensitivity/Response Somatic 5 24868098 Detail
lung non-small cell carcinoma Afatinib A Predictive Supports Sensitivity/Response Somatic 5 23982599 Detail
lung non-small cell carcinoma Gefitinib,Erlotinib B Predictive Supports Sensitivity/Response Somatic 4 16818686 Detail
lung adenocarcinoma Erlotinib C Predictive Supports Sensitivity/Response Somatic 27566387 Detail
lung non-small cell carcinoma Dacomitinib,Erlotinib B Predictive Supports Sensitivity/Response Somatic 3 26768165 Detail
lung adenocarcinoma Gefitinib B Predictive Does Not Support Reduced Sensitivity Somatic 3 27022112 Detail
lung adenocarcinoma Afatinib B Predictive Supports Sensitivity/Response Somatic 4 23816960 Detail
lung non-small cell carcinoma Afatinib D Predictive Supports Sensitivity/Response Somatic 2 25862853 Detail
lung adenocarcinoma Afatinib B Predictive Supports Sensitivity/Response Somatic 3 22452895 Detail
lung non-small cell carcinoma Erlotinib B Predictive Supports Sensitivity/Response Somatic 3 22285168 Detail
lung non-small cell carcinoma Afatinib D Predictive Supports Sensitivity/Response Somatic 2 26515464 Detail
lung adenocarcinoma Afatinib B Predictive Supports Sensitivity/Response Somatic 4 24439929 Detail
lung adenocarcinoma Afatinib B Predictive Supports Sensitivity/Response Somatic 4 25589191 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
90 NSCLC patients with stage IIIB/IV chemotherapy-resistant tumors were treated with gefitinib, and ... CIViC Evidence Detail
In a phase 3 clinical trial of Korean, never-smoker, lung adenocarcinoma patients, a subset of patie... CIViC Evidence Detail
Exon 19 deletion has been shown to be correlated with gefitinib response. CIViC Evidence Detail
On May 14, 2013, the U.S. Food and Drug Administration approved erlotinib (Tarceva) for the first-li... CIViC Evidence Detail
Afatinib, an irreversible inhibitor of the ErbB family of tyrosine kinases has been approved in the ... CIViC Evidence Detail
NSCLC patients with exon 19 deletions in EGFR had longer overall survival than patients with an L858... CIViC Evidence Detail
In a stage IV lung adenocarcinoma patient harboring EGFR exon 19 deletion, EGFR exon 19 deletion was... CIViC Evidence Detail
Non-small cell cancer patients from two studies [The ARCHER 1009 (NCT01360554) and A7471028 (NCT0076... CIViC Evidence Detail
A Japanese Phase III clinical study assessed the noninferiority of gefitinib in comparison to erloti... CIViC Evidence Detail
A phase III clinical trial (NCT00949650) found that median progression free survival among patients ... CIViC Evidence Detail
Stable HEK293 cell lines expressing mutant EGFR cDNAs were created (using a pQCLIN retroviral vector... CIViC Evidence Detail
In a phase 2 study (NCT00525148), patients with lung adenocarcinoma (stage IIIb with pleural effusio... CIViC Evidence Detail
A randomized phase 3 trial involving 173 NSCLC patients with EGFR mutations (exon 19 deletion or L85... CIViC Evidence Detail
Cells harboring an exon 19 deletion were sensitive to afatinib. This study performed drug response a... CIViC Evidence Detail
Afatinib is an irreversible covalent inhibitor of EGFR (second generation). This Phase III clinical ... CIViC Evidence Detail
In analysis of LUX-Lung 3 and LUX-Lung 6 trials (NCT00949650 and NCT01121393), of EGFR mutant NSCLC,... 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
EGFR
Genome
hg38
Position
chr7:55,174,722-55,174,820
Variant Type
cnv
Variant (CIViC) (CIViC Variant)
EXON 19 DELETION
Transcript 1 (CIViC Variant)
ENST00000275493.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/133
Summary (CIViC Variant)
Deletions within exon 19 of EGFR are most common in lung cancer. These deletions, in non-small cell lung cancer, have been shown to be sensitive to the EGFR tyrosine kinase inhibitors gefitinib, afatinib, and erlotinib. There is also data to suggest that this event is a good prognostic marker in lung adenocarcinoma.
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