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NM_005228.5(EGFR):c.2582T>G (p.Leu861Arg)

Uncertain significance​

Review status:
criteria provided, single submitter
First in ClinVar:
Jan 31, 2015
Most recent Submission:
Mar 8, 2017
Last evaluated:
Jun 17, 2013
Variation ID:
single nucleotide variant

NM_005228.5(EGFR):c.2582T>G (p.Leu861Arg)

Allele ID
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Genomic location
7: 55191831 (GRCh38) GRCh38 UCSC
7: 55259524 (GRCh37) GRCh37 UCSC
Nucleotide Protein Molecular
NM_005228.5:c.2582T>G MANE Select NP_005219.2:p.Leu861Arg missense
NM_001346897.2:c.2447T>G NP_001333826.1:p.Leu816Arg missense
NM_001346898.2:c.2582T>G NP_001333827.1:p.Leu861Arg missense
... more HGVS
Protein change
L861R, L808R, L594R, L816R
Other names
Canonical SPDI
Functional consequence
Global minor allele frequency (GMAF)

Allele frequency
ClinGen: CA135940
dbSNP: rs121913444

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 17, 2013 RCV000038443.5
Likely pathogenic 1 no assertion criteria provided Dec 26, 2014 RCV000434431.1
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EGFR No evidence available No evidence available GRCh38
2203 2498

Submitted interpretations and evidence

(Last evaluated)
Review status
(Assertion criteria)
Submitter More information
Uncertain significance
(Jun 17, 2013)
criteria provided, single submitter
Method: clinical testing
Not Specified
Affected status: not provided
Allele origin: somatic
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000062115.3
First in ClinVar: May 03, 2013
Last updated: Jan 31, 2015
PubMed (2)
PubMed: 1693159218509184
The 2582T>G (L861R) variant has been previously identified in a NSCLC tumor and one patient with this variant was reported to have stable disease after … (more)
Number of individuals with the variant: 2
Likely pathogenic
(Dec 26, 2014)
no assertion criteria provided
Method: literature only
Squamous cell lung carcinoma
(Somatic mutation)
Affected status: yes
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505170.1
First in ClinVar: Mar 08, 2017
Last updated: Mar 08, 2017
PubMed (2)
PubMed: 2275391823102728
Other databases…>G

Functional evidence

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

Title Author Journal Year Link
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
Specific EGFR mutations predict treatment outcome of stage IIIB/IV patients with chemotherapy-naive non-small-cell lung cancer receiving first-line gefitinib monotherapy. Yang CH Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2008 PMID: 18509184
Rapid and simple detection of hot spot point mutations of epidermal growth factor receptor, BRAF, and NRAS in cancers using the loop-hybrid mobility shift assay. Matsukuma S The Journal of molecular diagnostics : JMD 2006 PMID: 16931592>G - - - -

Text-mined citations for rs121913444...

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 Dec 24, 2022