chr7:55249005:G>T Detail (hg19) (EGFR, EGFR-AS1)

Information

Genome

Assembly Position
hg19 chr7:55,249,005-55,249,005
hg38 chr7:55,181,312-55,181,312 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.2303G>T NP_005219.2:p.Ser768Ile
NM_001346897.1:c.2168G>T NP_001333826.1:p.Ser723Ile
Ensemble ENST00000275493.7:c.2303G>T ENST00000275493.7:p.Ser768Ile
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 16
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
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 COSM6241 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 MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
not provided Non-small cell lung cancer somatic MGS000026
(TMGS000046) 		Manabu Muto Kyoto University
Pathogenic Pancreas somatic MGS000038
(TMGS000091) 		Manabu Muto
Ichiro Kinoshita		 Kyoto University
Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2011-03-11 criteria provided, single submitter Non-small cell lung carcinoma germline somatic Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Carcinoma of esophagus somatic Detail
Likely pathogenic 2014-12-26 no assertion criteria provided Squamous cell lung carcinoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung adenocarcinoma Erlotinib C Predictive Supports Sensitivity/Response Somatic 3 25521405 Detail
lung adenocarcinoma Gefitinib C Predictive Supports Sensitivity/Response Somatic 2 20522446 Detail
lung non-small cell carcinoma Erlotinib C Predictive Does Not Support Sensitivity/Response Somatic 2 27211795 Detail
lung adenocarcinoma Erlotinib C Predictive Supports Resistance Somatic 22895145 Detail
lung adenocarcinoma Erlotinib D Predictive Supports Resistance Somatic 19147750 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.200 Adenocarcinoma of lung (disorder) Non-responsiveness to gefitinib in a patient with lung adenocarcinoma having rar... BeFree 17045698 Detail
0.009 Non-small cell lung cancer metastatic We describe a case of a 63- year-old female with metastatic nonsmall cell lung c... BeFree 25882025 Detail
Annotation

Annotations

DescrptionSourceLinks
A patient with metastatic lung adenocarcinoma was found to harbor EGFR T790M and S768I mutations whe... CIViC Evidence Detail
Case report of an 81-year old man with lung adenocarcinoma and EGFR S768I mutation. The patient then... CIViC Evidence Detail
S768I mutations in exon 20 of the EGFR gene are rare and are typically seen in conjunction with sens... CIViC Evidence Detail
In stage IV lung adenocarcinoma patients (n=2) harboring EGFR S768I mutation, EGFR S768I was associa... CIViC Evidence Detail
In an in vitro study, a Ba/F3 cell line expressing EGFR S768I demonstrated reduced sensitivity to er... CIViC Evidence Detail
NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile) AND Non-small cell lung carcinoma ClinVar Detail
NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile) AND Carcinoma of esophagus ClinVar Detail
NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile) AND Squamous cell lung carcinoma ClinVar Detail
Non-responsiveness to gefitinib in a patient with lung adenocarcinoma having rare EGFR mutations S76... DisGeNET Detail
We describe a case of a 63- year-old female with metastatic nonsmall cell lung cancer with complex E... DisGeNET 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
rs121913465 dbSNP
Genome
hg19
Position
chr7:55,249,005-55,249,005
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
S768I
Transcript 1 (CIViC Variant)
ENST00000275493.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/562
Genome browser