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NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
4 (Most recent: Jul 18, 2016)
Last evaluated:
Mar 11, 2011
Accession:
VCV000045251.2
Variation ID:
45251
Description:
single nucleotide variant
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NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile)

Allele ID
54418
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p11.2
Genomic location
7: 55181312 (GRCh38) GRCh38 UCSC
7: 55249005 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P00533:p.Ser768Ile
NC_000007.13:g.55249005G>T
NC_000007.14:g.55181312G>T
... more HGVS
Protein change
S768I, S723I, S715I, S501I
Other names
-
Canonical SPDI
NC_000007.14:55181311:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Genetic Testing Registry (GTR): GTR000560812
UniProtKB: P00533#VAR_069502
dbSNP: rs121913465
ClinGen: CA135840
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 Mar 11, 2011 RCV000038407.4
Likely pathogenic 1 no assertion criteria provided Dec 26, 2014 RCV000435248.1
Likely pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000428042.1
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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
EGFR-AS1 - - - GRCh38 - 107

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 11, 2011)
criteria provided, single submitter
Method: clinical testing
Non-Small Cell Lung Cancer
Allele origin: somatic
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062079.3
Submitted: (Jan 29, 2015)
Evidence details
Publications
PubMed (5)
Likely pathogenic
(Dec 26, 2014)
no assertion criteria provided
Method: literature only
Squamous cell lung carcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505073.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (2)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Carcinoma of esophagus
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505072.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (2)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(Jul 14, 2015)
no assertion criteria provided
Method: literature only
Non-small cell lung cancer
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505071.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (3)
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
Prospective enterprise-level molecular genotyping of a cohort of cancer patients. MacConaill LE The Journal of molecular diagnostics : JMD 2014 PMID: 25157968
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
Good clinical response to gefitinib in a non-small cell lung cancer patient harboring a rare somatic epidermal growth factor gene point mutation; codon 768 AGC > ATC in exon 20 (S768I). Masago K Japanese journal of clinical oncology 2010 PMID: 20522446
Second-line treatments after first-line gefitinib therapy in advanced nonsmall cell lung cancer. Wu JY International journal of cancer 2010 PMID: 19536777
Functional analysis of epidermal growth factor receptor (EGFR) mutations and potential implications for EGFR targeted therapy. Kancha RK Clinical cancer research : an official journal of the American Association for Cancer Research 2009 PMID: 19147750
EGFR mutants found in non-small cell lung cancer show different levels of sensitivity to suppression of Src: implications in targeting therapy. Fu YN Oncogene 2008 PMID: 17653080
EGFR point mutation in non-small cell lung cancer is occasionally accompanied by a second mutation or amplification. Yokoyama T Cancer science 2006 PMID: 16863509
Gefitinib-sensitizing mutations in esophageal carcinoma. Guo M The New England journal of medicine 2006 PMID: 16707764
Distinctive activation patterns in constitutively active and gefitinib-sensitive EGFR mutants. Chen YR Oncogene 2006 PMID: 16205628
High frequency of epidermal growth factor receptor mutations with complex patterns in non-small cell lung cancers related to gefitinib responsiveness in Taiwan. Huang SF Clinical cancer research : an official journal of the American Association for Cancer Research 2004 PMID: 15623594
http://docm.genome.wustl.edu/variants/ENST00000275493:c.2303G>T - - - -

Text-mined citations for rs121913465...

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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