chr7:55154129:C>T 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	chr7:55,221,822-55,221,822 View the variant detail on this assembly version.
hg38	chr7:55,154,129-55,154,129

HGVS

EGFR

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

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
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	COSM6201359	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

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: hg38
Position: chr7:55,154,129-55,154,129
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

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