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NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg)

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Interpretation:
Likely pathogenic, drug response​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Jan 29, 2015)
Last evaluated:
Aug 10, 2009
Accession:
VCV000045224.1
Variation ID:
45224
Description:
single nucleotide variant
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NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg)

Allele ID
54391
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p11.2
Genomic location
7: 55174014 (GRCh38) GRCh38 UCSC
7: 55241707 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.55241707G>C
LRG_304:g.159983G>C
LRG_304t1:c.2155G>C LRG_304p1:p.Gly719Arg
... more HGVS
Protein change
G719R, G666R, G452R, G674R
Other names
-
Canonical SPDI
NC_000007.14:55174013:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA135772
dbSNP: rs28929495
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Aug 10, 2009 RCV000038379.2
drug response 1 no assertion criteria provided - RCV000114405.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EGFR - - GRCh38
GRCh37
1191 1315

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
drug-response
(-)
no assertion criteria provided
Method: not provided
Squamous cell carcinoma of the head and neck
Allele origin: not provided
Genetics, Bhagwan Mahavir Medical Research Centre
Accession: SCV000148122.1
Submitted: (Apr 10, 2014)
Evidence details
Comment:
Converted during submission to drug response.
Likely pathogenic
(Aug 10, 2009)
no assertion criteria provided
Method: clinical testing
Non-Small Cell Lung Cancer
Allele origin: somatic
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062051.2
Submitted: (Jan 29, 2015)
Evidence details
Publications
PubMed (3)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Epidermal growth factor receptor (EGFR) mutations as biomarker for head and neck squamous cell carcinomas (HNSCC). Nagalakshmi K Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals 2014 PMID: 24712396
Mutations in the tyrosine kinase domain of the epidermal growth factor receptor in non-small cell lung cancer. Yang SH Clinical cancer research : an official journal of the American Association for Cancer Research 2005 PMID: 15788655
EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Paez JG Science (New York, N.Y.) 2004 PMID: 15118125
Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. Lynch TJ The New England journal of medicine 2004 PMID: 15118073

Text-mined citations for rs28929495...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021