chr7:55241707:G>A Detail (hg19) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,241,707-55,241,707
hg38 chr7:55,174,014-55,174,014 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.2155G>A NP_005219.2:p.Gly719Ser
NM_001346897.1:c.2020G>A NP_001333826.1:p.Gly674Ser
Ensemble ENST00000275493.7:c.2155G>A ENST00000275493.7:p.Gly719Ser
Summary

MGeND

Clinical significance not provided
Variant entry 6
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain 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 COSM6252 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Neoplasm of urachus (disorder) unknown MGS000021
(TMGS000080) 		Manabu Muto Kyoto 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
drug response 2004-06-04 no assertion criteria provided Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic somatic Detail
drug response 2012-04-20 criteria provided, single submitter somatic Detail
Pathogenic 2015-07-14 no assertion criteria provided Non-small cell lung carcinoma somatic Detail
not provided 2016-03-10 no assertion provided Neoplasm of the large intestine somatic Detail
Uncertain significance 2021-02-20 criteria provided, single submitter EGFR-related lung cancer germline 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,Gefitinib B Predictive Supports Sensitivity/Response Somatic 3 26124334 Detail
lung non-small cell carcinoma Gefitinib D Predictive Supports Sensitivity/Response Somatic 4 15118125 Detail
lung non-small cell carcinoma Erlotinib D Predictive Supports Sensitivity/Response Somatic 19147750 Detail
colorectal cancer Cetuximab D Predictive Supports Sensitivity/Response Somatic 4 24894453 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.385 Non-small cell lung carcinoma NA CLINVAR Detail
0.023 Malignant tumor of colon Through biochemical and cellular pharmacologic studies, we have determined that ... BeFree 24894453 Detail
0.163 Squamous cell carcinoma of the head and neck NA CLINVAR Detail
0.025 colon carcinoma Through biochemical and cellular pharmacologic studies, we have determined that ... BeFree 24894453 Detail
Annotation

Annotations

DescrptionSourceLinks
This small clinical (n=56) study suggests that patients with minor mutations of EGFR, like G719S, ar... CIViC Evidence Detail
Gefinitib has been shown to be effective in treating cell lines with G719S missense mutations. CIViC Evidence Detail
In an in vitro study, a Ba/F3 cell line expressing EGFR G719S demonstrated increased sensitivity to ... CIViC Evidence Detail
Whole genome sequencing of a case of colon carcinoma revealed a G724S mutation in the EGFR gene. In-... CIViC Evidence Detail
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) AND Nonsmall cell lung cancer, response to tyrosine kinase... ClinVar Detail
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) AND Tyrosine kinase inhibitor response ClinVar Detail
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) AND Non-small cell lung carcinoma ClinVar Detail
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) AND Neoplasm of the large intestine ClinVar Detail
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) AND EGFR-related lung cancer ClinVar Detail
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) AND Lung adenocarcinoma ClinVar Detail
NA DisGeNET Detail
Through biochemical and cellular pharmacologic studies, we have determined that cells harboring the ... DisGeNET Detail
NA DisGeNET Detail
Through biochemical and cellular pharmacologic studies, we have determined that cells harboring the ... 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
rs28929495 dbSNP
Genome
hg19
Position
chr7:55,241,707-55,241,707
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
G719S
Transcript 1 (CIViC Variant)
ENST00000275493.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/134
Summary (CIViC Variant)
While not as recurrent as the L858R mutation, EGFR G719S has also been shown to be an activating mutation. In lung cancer cell lines, it also confers sensitivity to the tyrosine kinase inhibitors gefitinib and erlotinib.
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