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NM_005228.5(EGFR):c.322A>G (p.Arg108Gly)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
3
First in ClinVar:
Mar 8, 2017
Most recent Submission:
Mar 8, 2017
Last evaluated:
May 31, 2016
Accession:
VCV000376400.1
Variation ID:
376400
Description:
single nucleotide variant
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NM_005228.5(EGFR):c.322A>G (p.Arg108Gly)

Allele ID
363279
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p11.2
Genomic location
7: 55143386 (GRCh38) GRCh38 UCSC
7: 55211079 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_005228.5:c.322A>G MANE Select NP_005219.2:p.Arg108Gly missense
NM_001346897.2:c.322A>G NP_001333826.1:p.Arg108Gly missense
NM_001346898.2:c.322A>G NP_001333827.1:p.Arg108Gly missense
... more HGVS
Protein change
R108G, R55G
Other names
-
Canonical SPDI
NC_000007.14:55143385:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16602838
dbSNP: rs1057519888
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 May 31, 2016 RCV000424206.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000434481.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000440142.1
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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 		2303 2495

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
 Review status
(Assertion criteria)
 Condition
(Inheritance)
 Submitter More information
Likely pathogenic
(May 31, 2016)
 no assertion criteria provided
Method: literature only
 Brainstem glioma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506078.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000275493:c.322A>G
Likely pathogenic
(May 31, 2016)
 no assertion criteria provided
Method: literature only
 Glioblastoma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506079.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000275493:c.322A>G
Likely pathogenic
(May 31, 2016)
 no assertion criteria provided
Method: literature only
 Neoplasm of brain
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506080.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
Publications:
PubMed (1)
PubMed: 26619011
Other databases
http://docm.genome.wustl.edu/var… http://docm.genome.wustl.edu/variants/ENST00000275493:c.322A>G

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
http://docm.genome.wustl.edu/variants/ENST00000275493:c.322A>G - - - -

Text-mined citations for rs1057519888...

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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 Apr 25, 2022 

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