chr7:55181318:>CCAGCGTGG Detail (hg38) (EGFR, EGFR-AS1)

Information

Genome

Assembly Position
hg19 chr7:55,249,011-55,249,011 
hg38 chr7:55,181,318-55,181,318

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.2308_2309insCCAGCGTGG NP_005219.2:p.Ala767_Val769dup
NM_001346897.1:c.2173_2174insCCAGCGTGG NP_001333826.1:p.Ala722_Val724dup
Ensemble ENST00000275493.7:c.2308_2309insCCAGCGTGG ENST00000275493.7:p.Ala767_Val769dup
Summary

MGeND

Clinical significance
Variant entry
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 COSM12426 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
drug response 2010-02-24 no assertion criteria provided somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung adenocarcinoma Erlotinib C Predictive Supports Sensitivity/Response Somatic 3 26773740 Detail
lung adenocarcinoma Erlotinib C Predictive Supports Resistance Somatic 24353160 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Although EGFR exon 20 insertions may confer reduced sensitivity to erlotinib, patients with this par... CIViC Evidence Detail
In a study of 19 non-small cell lung carcinoma patients with EGFR exon 20 insertion mutations and tr... CIViC Evidence Detail
NM_005228.5(EGFR):c.2300_2308dup (p.Ala767_Val769dup) AND Tyrosine kinase inhibitor response 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
rs727504263 dbSNP
Genome
hg38
Position
chr7:55,181,318-55,181,318
Variant Type
snv
Reference Allele
-
Alternative Allele
CCAGCGTGG
Variant (CIViC) (CIViC Variant)
V769_770insASV
Transcript 1 (CIViC Variant)
ENST00000275493.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/736
Variant (CIViC) (CIViC Variant)
A767_V769dupASV
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1579
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