chr7:55174772:GGAATTAAGAGAAGC> Detail (hg38) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,242,465-55,242,479 
hg38 chr7:55,174,772-55,174,786

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.2235_2249delGGAATTAAGAGAAGC NP_005219.2:p.Glu746_Ala750del
NM_001346897.1:c.2100_2114delGGAATTAAGAGAAGC NP_001333826.1:p.Glu701_Ala705del
Ensemble ENST00000275493.7:c.2235_2249delGGAATTAAGAGAAGC ENST00000275493.7:p.Glu746_Ala750del
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 2
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 131550 OMIM
HGNC 3236 HGNC
Ensembl ENSG00000146648 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6223 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2017/06/22 lung adenocarcinoma somatic MGS000017
(TMGS000052)
Kohei Miyazono Tokyo University
not provided 2017/07/06 small cell lung cancer somatic MGS000017
(TMGS000052)
Kohei Miyazono Tokyo University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
drug response 2006-10-28 no assertion criteria provided somatic Detail
Uncertain significance 2022-08-27 criteria provided, single submitter EGFR-related lung cancer germline Detail
Pathogenic 2022-06-06 criteria provided, single submitter lung adenocarcinoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
bronchiolo-alveolar adenocarcinoma Erlotinib C Predictive Supports Sensitivity/Response Somatic 3 15329413 Detail
lung non-small cell carcinoma Gefitinib C Predictive Supports Sensitivity/Response Somatic 4 15329413 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
EGFR exons 18-24 were analyzed in 7 patients who had shown a partial response to erlotinib in a phas... CIViC Evidence Detail
Mutational profiling was performed on EGFR exons 18-24 from a group of 10 retrospectively chosen pat... CIViC Evidence Detail
NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) AND Tyrosine kinase inhibitor response ClinVar Detail
NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) AND EGFR-related lung cancer ClinVar Detail
NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) AND Lung adenocarcinoma 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
rs121913421 dbSNP
Genome
hg38
Position
chr7:55,174,772-55,174,786
Variant Type
snv
Reference Allele
GGAATTAAGAGAAGC
Alternative Allele
-
Variant (CIViC) (CIViC Variant)
E746_A750del
Transcript 1 (CIViC Variant)
ENST00000275493.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1002
Genome browser