chr7:55242511:G>T 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	chr7:55,242,511-55,242,511
hg38	chr7:55,174,818-55,174,818 View the variant detail on this assembly version.

HGVS

EGFR

Type	Transcript	Protein
RefSeq	NM_005228.3:c.2281G>T	NP_005219.2:p.Asp761Tyr
	NM_001346897.1:c.2146G>T	NP_001333826.1:p.Asp716Tyr
Ensemble	ENST00000275493.7:c.2281G>T	ENST00000275493.7:p.Asp761Tyr
	ENST00000450046.2:c.2122G>T	ENST00000450046.2:p.Asp708Tyr
	ENST00000455089.5:c.2146G>T	ENST00000455089.5:p.Asp716Tyr

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	COSM21984	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		malignant neoplasm of rectum	not provided	MGS000042 (TMGS000093)	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
Uncertain significance	2008-12-10	no assertion criteria provided	not specified	somatic	Detail
Likely pathogenic	2015-07-14	no assertion criteria provided	Non-small cell lung carcinoma	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
lung non-small cell carcinoma	Gefitinib,Erlotinib	C	Predictive	Supports	Resistance	Somatic	3	17085664	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	adenocarcinoma	Novel D761Y and common secondary T790M mutations in epidermal growth factor rece...	BeFree	17085664	Detail

Annotation

Annotations

Descrption	Source	Links
D761Y as a secondary mutation was reported to be associated with resistance to gefitinib and erlotin...	CIViC Evidence	Detail
NM_005228.5(EGFR):c.2281G>T (p.Asp761Tyr) AND not specified	ClinVar	Detail
NM_005228.5(EGFR):c.2281G>T (p.Asp761Tyr) AND Non-small cell lung carcinoma	ClinVar	Detail
Novel D761Y and common secondary T790M mutations in epidermal growth factor receptor-mutant lung ade...	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: rs121913418 dbSNP
Genome: hg19
Position: chr7:55,242,511-55,242,511
Variant Type: snv
Reference Allele: G
Alternative Allele: T
Variant (CIViC) (CIViC Variant): D761Y
Transcript 1 (CIViC Variant): ENST00000275493.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/712

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