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NM_005228.5(EGFR):c.2281G>T (p.Asp761Tyr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Jul 18, 2016)
Last evaluated:
Jul 14, 2015
Accession:
VCV000045244.1
Variation ID:
45244
Description:
single nucleotide variant
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NM_005228.5(EGFR):c.2281G>T (p.Asp761Tyr)

Allele ID
54411
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p11.2
Genomic location
7: 55174818 (GRCh38) GRCh38 UCSC
7: 55242511 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_304:g.160787G>T
LRG_304t1:c.2281G>T
NC_000007.13:g.55242511G>T
... more HGVS
Protein change
D761Y, D716Y, D494Y, D708Y
Other names
-
Canonical SPDI
NC_000007.14:55174817:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA135827
dbSNP: rs121913418
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 no assertion criteria provided Dec 10, 2008 RCV000038400.2
Likely pathogenic 1 no assertion criteria provided Jul 14, 2015 RCV000435465.1
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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
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: SCV000505070.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (3)
Other databases
http://docm.genome.wustl.edu/var…
Uncertain significance
(Dec 10, 2008)
no assertion criteria provided
Method: clinical testing
Not Specified
Allele origin: somatic
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062072.2
Submitted: (Jan 29, 2015)
Evidence details
Publications
PubMed (2)

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
The epidermal growth factor receptor D761Y mutation and effect of tyrosine kinase inhibitor. Toyooka S Clinical cancer research : an official journal of the American Association for Cancer Research 2007 PMID: 17545553
The impact of epidermal growth factor receptor gene status on gefitinib-treated Japanese patients with non-small-cell lung cancer. Ichihara S International journal of cancer 2007 PMID: 17192902
Novel D761Y and common secondary T790M mutations in epidermal growth factor receptor-mutant lung adenocarcinomas with acquired resistance to kinase inhibitors. Balak MN Clinical cancer research : an official journal of the American Association for Cancer Research 2006 PMID: 17085664
Double mutation and gene copy number of EGFR in gefitinib refractory non-small-cell lung cancer. Tokumo M Lung cancer (Amsterdam, Netherlands) 2006 PMID: 16730855
http://docm.genome.wustl.edu/variants/ENST00000275493:c.2281G>T - - - -

Text-mined citations for rs121913418...

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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