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 treatment with Gefitinib (Yang 2008). However, this single case is not sufficient evidence to predict the likelihood of responsiveness in this individual. Additional information is needed to clarify the clinical significance of this variant.
ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Uncertain significance
- Review status:
- criteria provided, single submitter
- Submissions:
- 2
- First in ClinVar:
- Jan 31, 2015
- Most recent Submission:
- Mar 8, 2017
- Last evaluated:
- Jun 17, 2013
- Accession:
- VCV000045287.4
- Variation ID:
- 45287
- Description:
- single nucleotide variant
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NM_005228.5(EGFR):c.2582T>G (p.Leu861Arg)
- Allele ID
- 54454
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 7p11.2
- Genomic location
- 7: 55191831 (GRCh38) GRCh38 UCSC
- 7: 55259524 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_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 NM_001346899.2:c.2447T>G NP_001333828.1:p.Leu816Arg missense NM_001346900.2:c.2423T>G NP_001333829.1:p.Leu808Arg missense NM_001346941.2:c.1781T>G NP_001333870.1:p.Leu594Arg missense NC_000007.14:g.55191831T>G NC_000007.13:g.55259524T>G NG_007726.3:g.177800T>G LRG_304:g.177800T>G LRG_304t1:c.2582T>G - Protein change
- L861R, L808R, L594R, L816R
- Other names
- -
- Canonical SPDI
- NC_000007.14:55191830:T:G
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- ClinGen: CA135940
- dbSNP: rs121913444
- VarSome
Help
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 |
Help
| 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 GRCh37 |
2203 | 2498 | |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
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 |
Comment:
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)
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 treatment with Gefitinib (Yang 2008). However, this single case is not sufficient evidence to predict the likelihood of responsiveness in this individual. Additional information is needed to clarify the clinical significance of this variant. (less)
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 |
|
Functional evidence
Help| 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
Help| 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 |
| http://docm.genome.wustl.edu/variants/ENST00000275493:c.2582T>G | - | - | - | - |
Text-mined citations for rs121913444...
HelpThese 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