NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys) AND Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic

Clinical significance:drug response (Last evaluated: May 20, 2004)

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:
RCV000018086.85

Allele description [Variation Report for NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys)]

NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys)

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.2155G>T (p.Gly719Cys)
Other names:
EGFR, GLY719CYS (rs28929495)
HGVS:
  • NC_000007.14:g.55174014G>T
  • NG_007726.3:g.159983G>T
  • NM_001346897.2:c.2020G>T
  • NM_001346898.2:c.2155G>T
  • NM_001346899.2:c.2020G>T
  • NM_001346900.2:c.1996G>T
  • NM_001346941.2:c.1354G>T
  • NM_005228.5:c.2155G>TMANE SELECT
  • NP_001333826.1:p.Gly674Cys
  • NP_001333827.1:p.Gly719Cys
  • NP_001333828.1:p.Gly674Cys
  • NP_001333829.1:p.Gly666Cys
  • NP_001333870.1:p.Gly452Cys
  • NP_005219.2:p.Gly719Cys
  • LRG_304t1:c.2155G>T
  • LRG_304:g.159983G>T
  • NC_000007.13:g.55241707G>T
  • NM_005228.3:c.2155G>T
  • P00533:p.Gly719Cys
  • c.2155G>T
Protein change:
G452C; GLY719CYS
Links:
UniProtKB: P00533#VAR_026087; OMIM: 131550.0004; dbSNP: rs28929495
NCBI 1000 Genomes Browser:
rs28929495
Molecular consequence:
  • NM_001346897.2:c.2020G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346898.2:c.2155G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346899.2:c.2020G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346900.2:c.1996G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346941.2:c.1354G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005228.5:c.2155G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic
Identifiers:
MedGen: C4016032

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000038365OMIMno assertion criteria provideddrug response
(May 20, 2004)
somaticliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib.

Lynch TJ, Bell DW, Sordella R, Gurubhagavatula S, Okimoto RA, Brannigan BW, Harris PL, Haserlat SM, Supko JG, Haluska FG, Louis DN, Christiani DC, Settleman J, Haber DA.

N Engl J Med. 2004 May 20;350(21):2129-39. Epub 2004 Apr 29.

PubMed [citation]
PMID:
15118073

Details of each submission

From OMIM, SCV000038365.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a tumor from a patient with nonsmall cell lung cancer (211980) responsive to gefitinib, Lynch et al. (2004) identified a somatic 2155G-T transversion in the EGFR gene, resulting in a gly719-to-cys (G719C) mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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