chr7:55191831:T>A Detail (hg38) (EGFR)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

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

HGVS

EGFR

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
	ENST00000450046.2:c.2423T>A	ENST00000450046.2:p.Leu808Gln
	ENST00000455089.5:c.2447T>A	ENST00000455089.5:p.Leu816Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic; drug response
Review star
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Links

EGFR

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

[No Data.]

MGeND

[No Data.]

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

Descrption	Source	Links
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: hg38
Position: chr7:55,191,831-55,191,831
Variant Type: snv
Reference Allele: T
Alternative Allele: A

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