chr7:55241708:G>C Detail (hg19) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,241,708-55,241,708
hg38 chr7:55,174,015-55,174,015 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.2156G>C NP_005219.2:p.Gly719Ala
NM_001346897.1:c.2021G>C NP_001333826.1:p.Gly674Ala
Ensemble ENST00000275493.7:c.2156G>C ENST00000275493.7:p.Gly719Ala
Summary

MGeND

Clinical significance not provided
Variant entry 19
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 COSM6239 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
not provided Non-small cell lung cancer somatic MGS000018
(TMGS000110) 		Hitoshi Nakagama National Cancer Center Japan 30742731
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 2013-01-04 criteria provided, single submitter Non-small cell lung carcinoma germline somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided glioblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung non-small cell carcinoma Gefitinib C Predictive Supports Sensitivity/Response Somatic 20038723 Detail
lung non-small cell carcinoma Gefitinib,Erlotinib C Predictive Does Not Support Sensitivity/Response Somatic 2 23749122 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.385 Non-small cell lung carcinoma Low frequency KRAS active (G12R) and EGFR kinase domain mutations (G719A) were i... BeFree 24200637 Detail
0.385 Non-small cell lung carcinoma NA CLINVAR Detail
0.321 Non-small cell lung carcinoma Low frequency KRAS active (G12R) and EGFR kinase domain mutations (G719A) were i... BeFree 24200637 Detail
Annotation

Annotations

DescrptionSourceLinks
In a study of 297 non-small cell lung cancer patients, 15% of the analyzed tumors had EGFR mutation... CIViC Evidence Detail
In a large retrospective study, EGFR exons 18-21 were assessed using direct sequencing in 753 French... CIViC Evidence Detail
NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala) AND Non-small cell lung carcinoma ClinVar Detail
NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala) AND Glioblastoma ClinVar Detail
NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala) AND Lung adenocarcinoma ClinVar Detail
Low frequency KRAS active (G12R) and EGFR kinase domain mutations (G719A) were identified in one NSC... DisGeNET Detail
NA DisGeNET Detail
Low frequency KRAS active (G12R) and EGFR kinase domain mutations (G719A) were identified in one NSC... 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
rs121913428 dbSNP
Genome
hg19
Position
chr7:55,241,708-55,241,708
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
G719A
Transcript 1 (CIViC Variant)
ENST00000275493.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/999
Genome browser