chr7:55174014:G>A Detail (hg38) (EGFR)

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Information

Genome

Assembly	Position
hg19	chr7:55,241,707-55,241,707 View the variant detail on this assembly version.
hg38	chr7:55,174,014-55,174,014

Summary

[No Data.]

Clinical Significance	Uncertain significance; drug response
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Links

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	COSM6252	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
drug response	2004-06-04	no assertion criteria provided	Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic	somatic	Detail
drug response	2012-04-20	criteria provided, single submitter		somatic	Detail
Pathogenic	2015-07-14	no assertion criteria provided	Non-small cell lung carcinoma	somatic	Detail
not provided	2016-03-10	no assertion provided	Neoplasm of the large intestine	somatic	Detail
Uncertain significance	2021-02-20	criteria provided, single submitter	EGFR-related lung cancer	germline	Detail
Likely pathogenic		no assertion criteria provided	lung adenocarcinoma	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
lung non-small cell carcinoma	Erlotinib,Gefitinib	B	Predictive	Supports	Sensitivity/Response	Somatic	3	26124334	Detail
lung non-small cell carcinoma	Gefitinib	D	Predictive	Supports	Sensitivity/Response	Somatic	4	15118125	Detail
lung non-small cell carcinoma	Erlotinib	D	Predictive	Supports	Sensitivity/Response	Somatic		19147750	Detail
colorectal cancer	Cetuximab	D	Predictive	Supports	Sensitivity/Response	Somatic	4	24894453	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.385	Non-small cell lung carcinoma	NA	CLINVAR		Detail
0.023	Malignant tumor of colon	Through biochemical and cellular pharmacologic studies, we have determined that ...	BeFree	24894453	Detail
0.163	Squamous cell carcinoma of the head and neck	NA	CLINVAR		Detail
0.025	colon carcinoma	Through biochemical and cellular pharmacologic studies, we have determined that ...	BeFree	24894453	Detail

Annotation

Descrption	Source	Links
This small clinical (n=56) study suggests that patients with minor mutations of EGFR, like G719S, ar...	CIViC Evidence	Detail
Gefinitib has been shown to be effective in treating cell lines with G719S missense mutations.	CIViC Evidence	Detail
In an in vitro study, a Ba/F3 cell line expressing EGFR G719S demonstrated increased sensitivity to ...	CIViC Evidence	Detail
Whole genome sequencing of a case of colon carcinoma revealed a G724S mutation in the EGFR gene. In-...	CIViC Evidence	Detail
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) AND Nonsmall cell lung cancer, response to tyrosine kinase...	ClinVar	Detail
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) AND Tyrosine kinase inhibitor response	ClinVar	Detail
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) AND Non-small cell lung carcinoma	ClinVar	Detail
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) AND Neoplasm of the large intestine	ClinVar	Detail
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) AND EGFR-related lung cancer	ClinVar	Detail
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) AND Lung adenocarcinoma	ClinVar	Detail
NA	DisGeNET	Detail
Through biochemical and cellular pharmacologic studies, we have determined that cells harboring the ...	DisGeNET	Detail
NA	DisGeNET	Detail
Through biochemical and cellular pharmacologic studies, we have determined that cells harboring the ...	DisGeNET	Detail

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs28929495 dbSNP
Genome: hg38
Position: chr7:55,174,014-55,174,014
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Variant (CIViC) (CIViC Variant): G719S
Transcript 1 (CIViC Variant): ENST00000275493.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/134
Summary (CIViC Variant): While not as recurrent as the L858R mutation, EGFR G719S has also been shown to be an activating mutation. In lung cancer cell lines, it also confers sensitivity to the tyrosine kinase inhibitors gefitinib and erlotinib.

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