chr7:55259524:T>A Detail (hg19) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,259,524-55,259,524
hg38 chr7:55,191,831-55,191,831 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.2582T>A NP_005219.2:p.Leu861Gln
NM_001346897.1:c.2447T>A NP_001333826.1:p.Leu816Gln
Ensemble ENST00000275493.7:c.2582T>A ENST00000275493.7:p.Leu861Gln
Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic; 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 COSM6213 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 Adenocarcinoma of lung (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 2006-10-28 no assertion criteria provided somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided lung adenocarcinoma somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided Non-small cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell lung carcinoma somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.385 Non-small cell lung carcinoma Epidermal growth factor receptor (EGFR) gene mutations (G719X, exon 19 deletions... BeFree 24353160 Detail
0.005 mucoepidermoid carcinoma EGFR L861Q mutation is a frequent feature of pulmonary mucoepidermoid carcinoma. BeFree 22526156 Detail
0.360 adenocarcinoma EGFR L861Q mutation was detected in both small-cell lung cancer and adenocarcino... BeFree 24195468 Detail
0.385 Non-small cell lung carcinoma Effectiveness of gefitinib against non-small-cell lung cancer with the uncommon ... BeFree 24419415 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005228.5(EGFR):c.2582T>A (p.Leu861Gln) AND Tyrosine kinase inhibitor response ClinVar Detail
NM_005228.5(EGFR):c.2582T>A (p.Leu861Gln) AND Lung adenocarcinoma ClinVar Detail
NM_005228.5(EGFR):c.2582T>A (p.Leu861Gln) AND Non-small cell lung carcinoma ClinVar Detail
NM_005228.5(EGFR):c.2582T>A (p.Leu861Gln) AND Squamous cell lung carcinoma ClinVar Detail
Epidermal growth factor receptor (EGFR) gene mutations (G719X, exon 19 deletions/insertions, L858R, ... DisGeNET Detail
EGFR L861Q mutation is a frequent feature of pulmonary mucoepidermoid carcinoma. DisGeNET Detail
EGFR L861Q mutation was detected in both small-cell lung cancer and adenocarcinoma components. DisGeNET Detail
Effectiveness of gefitinib against non-small-cell lung cancer with the uncommon EGFR mutations G719X... 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
rs121913444 dbSNP
Genome
hg19
Position
chr7:55,259,524-55,259,524
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Genome browser