chr7:55241708:G>A 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	chr7:55,241,708-55,241,708
hg38	chr7:55,174,015-55,174,015 View the variant detail on this assembly version.

HGVS

EGFR

Type	Transcript	Protein
RefSeq	NM_005228.3:c.2156G>A	NP_005219.2:p.Gly719Asp
	NM_001346897.1:c.2021G>A	NP_001333826.1:p.Gly674Asp
Ensemble	ENST00000275493.7:c.2156G>A	ENST00000275493.7:p.Gly719Asp
	ENST00000455089.5:c.2021G>A	ENST00000455089.5:p.Gly674Asp
	ENST00000450046.2:c.1997G>A	ENST00000450046.2:p.Gly666Asp

Summary

MGeND

Clinical significance	not provided
Variant entry	3
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
Review star
Show details

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	COSM18425	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		bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2015-07-14	no assertion criteria provided	Non-small cell lung carcinoma	somatic	Detail
Likely pathogenic	2014-12-26	no assertion criteria provided	Squamous cell lung carcinoma	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

[No Data.]

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

Descrption	Source	Links
NM_005228.5(EGFR):c.2156G>A (p.Gly719Asp) AND Non-small cell lung carcinoma	ClinVar	Detail
NM_005228.5(EGFR):c.2156G>A (p.Gly719Asp) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_005228.5(EGFR):c.2156G>A (p.Gly719Asp) AND Glioblastoma	ClinVar	Detail
NM_005228.5(EGFR):c.2156G>A (p.Gly719Asp) 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: A

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