chr7:55249091:T>A Detail (hg19) (EGFR, EGFR-AS1)

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

Genome

Assembly	Position
hg19	chr7:55,249,091-55,249,091
hg38	chr7:55,181,398-55,181,398 View the variant detail on this assembly version.

HGVS

EGFR

Type	Transcript	Protein
RefSeq	NM_005228.3:c.2389T>A	NP_005219.2:p.Cys797Ser
	NM_001346897.1:c.2254T>A	NP_001333826.1:p.Cys752Ser
Ensemble	ENST00000275493.7:c.2389T>A	ENST00000275493.7:p.Cys797Ser
	ENST00000450046.2:c.2230T>A	ENST00000450046.2:p.Cys744Ser
	ENST00000455089.5:c.2254T>A	ENST00000455089.5:p.Cys752Ser

Summary

MGeND

Clinical significance	not provided
Variant entry	4
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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	COSM6493937	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	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided	2016-03-10	no assertion provided	Non-small cell lung carcinoma	somatic	Detail
Uncertain significance	2022-08-27	criteria provided, single submitter	EGFR-related lung cancer	germline	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
lung adenocarcinoma	Osimertinib	C	Predictive	Supports	Resistance	Somatic	1	26181354	Detail
lung non-small cell carcinoma	Osimertinib	B	Predictive	Supports	Resistance	Somatic	3	25939061	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
Case report of a patient with stage IV lung adenocarcinoma and a 15–base pair deletion in EGFR exon ...	CIViC Evidence	Detail
An EGFR resistance mutation, C797S, was discovered by deep sequencing of cell-free plasma DNA (cfDNA...	CIViC Evidence	Detail
NM_005228.5(EGFR):c.2389T>A (p.Cys797Ser) AND Non-small cell lung carcinoma	ClinVar	Detail
NM_005228.5(EGFR):c.2389T>A (p.Cys797Ser) AND EGFR-related lung cancer	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: rs1057519861 dbSNP
Genome: hg19
Position: chr7:55,249,091-55,249,091
Variant Type: snv
Reference Allele: T
Alternative Allele: A
Variant (CIViC) (CIViC Variant): C797S
Transcript 1 (CIViC Variant): ENST00000275493.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/415

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