chr7:55221822:C>T Detail (hg19) (EGFR)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr7:55,221,822-55,221,822
hg38	chr7:55,154,129-55,154,129 View the variant detail on this assembly version.

HGVS

EGFR

Type	Transcript	Protein
RefSeq	NM_201283.1:c.866C>T	NP_958440.1:p.Ala289Val
	NM_005228.3:c.866C>T	NP_005219.2:p.Ala289Val
	NM_201282.1:c.866C>T	NP_958439.1:p.Ala289Val
	NM_201284.1:c.866C>T	NP_958441.1:p.Ala289Val
	NM_001346897.1:c.731C>T	NP_001333826.1:p.Ala244Val
Ensemble	ENST00000420316.6:c.866C>T	ENST00000420316.6:p.Ala289Val
	ENST00000275493.7:c.866C>T	ENST00000275493.7:p.Ala289Val
	ENST00000342916.7:c.866C>T	ENST00000342916.7:p.Ala289Val
	ENST00000344576.7:c.866C>T	ENST00000344576.7:p.Ala289Val
	ENST00000455089.5:c.731C>T	ENST00000455089.5:p.Ala244Val
	ENST00000450046.2:c.707C>T	ENST00000450046.2:p.Ala236Val

Summary

MGeND

Clinical significance	not provided
Variant entry	4
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	COSM6201359	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		pyloric antrum	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan
not provided		appendix	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	2016-05-31	no assertion criteria provided	glioblastoma	somatic	Detail
Likely pathogenic	2014-12-26	no assertion criteria provided	Neoplasm of brain	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Squamous cell carcinoma of the head and neck	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
high grade glioma	Erlotinib	D	Predictive	Supports	Sensitivity/Response	Somatic	3	17177598	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
In an in vitro study, a Ba/F3 cell line expressing EGFR A289V demonstrated increased sensitivity to ...	CIViC Evidence	Detail
NM_005228.5(EGFR):c.866C>T (p.Ala289Val) AND Glioblastoma	ClinVar	Detail
NM_005228.5(EGFR):c.866C>T (p.Ala289Val) AND Neoplasm of brain	ClinVar	Detail
NM_005228.5(EGFR):c.866C>T (p.Ala289Val) AND Squamous cell carcinoma of the head and neck	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: rs149840192 dbSNP
Genome: hg19
Position: chr7:55,221,822-55,221,822
Variant Type: snv
Reference Allele: C
Alternative Allele: T
Variant (CIViC) (CIViC Variant): A289V
Transcript 1 (CIViC Variant): ENST00000275493.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/996

Genome browser