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NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
4 (Most recent: Jul 18, 2016)
Last evaluated:
Jan 4, 2013
Accession:
VCV000045225.2
Variation ID:
45225
Description:
single nucleotide variant
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NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala)

Allele ID
54392
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p11.2
Genomic location
7: 55174015 (GRCh38) GRCh38 UCSC
7: 55241708 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P00533:p.Gly719Ala
NC_000007.13:g.55241708G>C
LRG_304:g.159984G>C
... more HGVS
Protein change
G719A, G666A, G674A, G452A
Other names
-
Canonical SPDI
NC_000007.14:55174014:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA135775
Genetic Testing Registry (GTR): GTR000560812
UniProtKB: P00533#VAR_026086
dbSNP: rs121913428
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Jan 4, 2013 RCV000038381.3
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000436293.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000426037.1
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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
1202 1326

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 04, 2013)
criteria provided, single submitter
Method: clinical testing
Non-Small Cell Lung Cancer
Allele origin: somatic
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062053.3
Submitted: (Jan 29, 2015)
Evidence details
Publications
PubMed (4)
Comment:
The Gly719Ala variant has been reported in isolation in individuals with increased sensitivity to gefitinib treatment (Han 2005).
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
None
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504236.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Glioblastoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504235.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Non-small cell lung carcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504234.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (14)
Other databases
http://docm.genome.wustl.edu/var…

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
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT Nature biotechnology 2016 PMID: 26619011
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE The Journal of molecular diagnostics : JMD 2014 PMID: 25157968
Compound EGFR mutations and response to EGFR tyrosine kinase inhibitors. Kobayashi S Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2013 PMID: 23242437
MEK inhibitors reverse resistance in epidermal growth factor receptor mutation lung cancer cells with acquired resistance to gefitinib. Huang MH Molecular oncology 2013 PMID: 23102728
Randomized phase II study of dacomitinib (PF-00299804), an irreversible pan-human epidermal growth factor receptor inhibitor, versus erlotinib in patients with advanced non-small-cell lung cancer. Ramalingam SS Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2012 PMID: 22753918
Effectiveness of tyrosine kinase inhibitors on "uncommon" epidermal growth factor receptor mutations of unknown clinical significance in non-small cell lung cancer. Wu JY Clinical cancer research : an official journal of the American Association for Cancer Research 2011 PMID: 21531810
Neratinib, an irreversible pan-ErbB receptor tyrosine kinase inhibitor: results of a phase II trial in patients with advanced non-small-cell lung cancer. Sequist LV Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2010 PMID: 20479403
Epidermal growth factor receptor in relation to tumor development: EGFR gene and cancer. Mitsudomi T The FEBS journal 2010 PMID: 19922469
First-line gefitinib in patients with advanced non-small-cell lung cancer harboring somatic EGFR mutations. Sequist LV Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2008 PMID: 18458038
Activating mutations in the tyrosine kinase domain of the epidermal growth factor receptor are associated with improved survival in gefitinib-treated chemorefractory lung adenocarcinomas. Taron M Clinical cancer research : an official journal of the American Association for Cancer Research 2005 PMID: 16115929
Mutations in the tyrosine kinase domain of the EGFR gene associated with gefitinib response in non-small-cell lung cancer. Rosell R Lung cancer (Amsterdam, Netherlands) 2005 PMID: 16011858
Mutations of the epidermal growth factor receptor gene predict prolonged survival after gefitinib treatment in patients with non-small-cell lung cancer with postoperative recurrence. Mitsudomi T Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2005 PMID: 15738541
Predictive and prognostic impact of epidermal growth factor receptor mutation in non-small-cell lung cancer patients treated with gefitinib. Han SW Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2005 PMID: 15710947
EGF receptor gene mutations are common in lung cancers from "never smokers" and are associated with sensitivity of tumors to gefitinib and erlotinib. Pao W Proceedings of the National Academy of Sciences of the United States of America 2004 PMID: 15329413
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
Effects of marine oil-enriched diets on guinea pig megakaryocyte and platelet lipids: effects on thromboxane synthesis and platelet function. Schick PK Biochimica et biophysica acta 1990 PMID: 2302402
http://docm.genome.wustl.edu/variants/ENST00000275493:c.2156G>C - - - -

Text-mined citations for rs121913428...

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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 Nov 27, 2021