chr7:55249014:>GCGTGGACA Detail (hg19) (EGFR, EGFR-AS1)

Information

Genome

Assembly Position
hg19 chr7:55,249,014-55,249,014
hg38 chr7:55,181,321-55,181,321 

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.2311_2312insGCGTGGACA NP_005219.2:p.Ser768_Asp770dup
NM_001346897.1:c.2176_2177insGCGTGGACA NP_001333826.1:p.Ser723_Asp725dup
Ensemble ENST00000275493.7:c.2311_2312insGCGTGGACA ENST00000275493.7:p.Ser768_Asp770dup
Summary

MGeND

Clinical significance not provided
Variant entry 18
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance drug response
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 COSM85749 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2006-10-28 no assertion criteria provided Non-small cell lung carcinoma somatic Detail
drug response 2012-06-01 criteria provided, single submitter somatic Detail
Likely pathogenic no assertion criteria provided lung adenocarcinoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung non-small cell carcinoma Erlotinib D Predictive Supports Resistance Somatic 24353160 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In an in vitro study, a Ba/F3 cell line expressing EGFR D770_N771insSVD demonstrated reduced sensiti... CIViC Evidence Detail
NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup) AND Non-small cell lung carcinoma ClinVar Detail
NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup) AND Tyrosine kinase inhibitor response ClinVar Detail
NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup) 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
rs397517109 dbSNP
Genome
hg19
Position
chr7:55,249,014-55,249,014
Variant Type
snv
Reference Allele
-
Alternative Allele
GCGTGGACA
Variant (CIViC) (CIViC Variant)
D770_N771insSVD
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1445
Genome browser