NM_005228.5(EGFR):c.2156G>A (p.Gly719Asp) AND Squamous cell lung carcinoma

Clinical significance:Likely pathogenic (Last evaluated: Dec 26, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000420993.1

Allele description [Variation Report for NM_005228.5(EGFR):c.2156G>A (p.Gly719Asp)]

NM_005228.5(EGFR):c.2156G>A (p.Gly719Asp)

Gene:
EGFR:epidermal growth factor receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p11.2
Genomic location:
Preferred name:
NM_005228.5(EGFR):c.2156G>A (p.Gly719Asp)
HGVS:
  • NC_000007.14:g.55174015G>A
  • NG_007726.3:g.159984G>A
  • NM_001346897.2:c.2021G>A
  • NM_001346898.2:c.2156G>A
  • NM_001346899.2:c.2021G>A
  • NM_001346900.2:c.1997G>A
  • NM_001346941.2:c.1355G>A
  • NM_005228.5:c.2156G>AMANE SELECT
  • NP_001333826.1:p.Gly674Asp
  • NP_001333827.1:p.Gly719Asp
  • NP_001333828.1:p.Gly674Asp
  • NP_001333829.1:p.Gly666Asp
  • NP_001333870.1:p.Gly452Asp
  • NP_005219.2:p.Gly719Asp
  • LRG_304:g.159984G>A
  • NC_000007.13:g.55241708G>A
Protein change:
G452D
Links:
dbSNP: rs121913428
NCBI 1000 Genomes Browser:
rs121913428
Molecular consequence:
  • NM_001346897.2:c.2021G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346898.2:c.2156G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346899.2:c.2021G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346900.2:c.1997G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346941.2:c.1355G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005228.5:c.2156G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Squamous cell lung carcinoma
Synonyms:
Lung cancer, squamous cell, somatic; Squamous cell carcinoma of lung
Identifiers:
MONDO: MONDO:0005097; MedGen: C0149782; Human Phenotype Ontology: HP:0030359

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000505057Database of Curated Mutations (DoCM)no assertion criteria providedLikely pathogenic
(Dec 26, 2014)
somaticliterature only

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

MEK inhibitors reverse resistance in epidermal growth factor receptor mutation lung cancer cells with acquired resistance to gefitinib.

Huang MH, Lee JH, Chang YJ, Tsai HH, Lin YL, Lin AM, Yang JC.

Mol Oncol. 2013 Feb;7(1):112-20. doi: 10.1016/j.molonc.2012.09.002. Epub 2012 Oct 13.

PubMed [citation]
PMID:
23102728
PMCID:
PMC5528404

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, Blackhall F, Krzakowski M, Barrios CH, Park K, Bover I, Seog Heo D, Rosell R, Talbot DC, Frank R, Letrent SP, Ruiz-Garcia A, Taylor I, Liang JQ, Campbell AK, O'Connell J, Boyer M.

J Clin Oncol. 2012 Sep 20;30(27):3337-44. doi: 10.1200/JCO.2011.40.9433. Epub 2012 Jul 2.

PubMed [citation]
PMID:
22753918
PMCID:
PMC5321098

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505057.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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