chr7:55242465:GGAATTAAGAGAAGC> Detail (hg19) (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	chr7:55,242,465-55,242,479
hg38	chr7:55,174,772-55,174,786

HGVS

EGFR

Type	Transcript	Protein
RefSeq	NM_001346897.1:c.2100_2114delGGAATTAAGAGAAGC	NP_001333826.1:p.Glu701_Ala705del
	NM_005228.3:c.2235_2249delGGAATTAAGAGAAGC	NP_005219.2:p.Glu746_Ala750del
Ensemble	ENST00000455089.5:c.2100_2114delGGAATTAAGAGAAGC	ENST00000455089.5:p.Glu701_Ala705del
	ENST00000275493.7:c.2235_2249delGGAATTAAGAGAAGC	ENST00000275493.7:p.Glu746_Ala750del
	ENST00000450046.2:c.2076_2090delGGAATTAAGAGAAGC	ENST00000450046.2:p.Glu693_Ala697del

Summary

MGeND

Clinical significance	not provided
Variant entry	129
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	COSM6223	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
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		lung cancer	somatic	MGS000039 (TMGS000092)	Hitoshi Nakagama	National Cancer Center Japan	29659903
not provided		bronchus or lung, unspecified	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
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
Uncertain significance	2022-08-27	criteria provided, single submitter	EGFR-related lung cancer	germline	Detail
Pathogenic	2022-06-06	criteria provided, single submitter	lung adenocarcinoma	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
bronchiolo-alveolar adenocarcinoma	Erlotinib	C	Predictive	Supports	Sensitivity/Response	Somatic	3	15329413	Detail
lung non-small cell carcinoma	Gefitinib	C	Predictive	Supports	Sensitivity/Response	Somatic	4	15329413	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
EGFR exons 18-24 were analyzed in 7 patients who had shown a partial response to erlotinib in a phas...	CIViC Evidence	Detail
Mutational profiling was performed on EGFR exons 18-24 from a group of 10 retrospectively chosen pat...	CIViC Evidence	Detail
NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) AND Tyrosine kinase inhibitor response	ClinVar	Detail
NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) AND EGFR-related lung cancer	ClinVar	Detail
NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) AND Lung adenocarcinoma	ClinVar	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: rs121913421 dbSNP
Genome: hg19
Position: chr7:55,242,465-55,242,479
Variant Type: snv
Reference Allele: GGAATTAAGAGAAGC
Alternative Allele: -
Variant (CIViC) (CIViC Variant): E746_A750del
Transcript 1 (CIViC Variant): ENST00000275493.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1002

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