NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg) AND Non-small cell lung cancer

Clinical significance:Likely pathogenic (Last evaluated: Aug 10, 2009)

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:
RCV000038379.2

Allele description [Variation Report for NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg)]

NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg)

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>C (p.Gly719Arg)
HGVS:
  • NC_000007.14:g.55174014G>C
  • NG_007726.3:g.159983G>C
  • NM_001346897.2:c.2020G>C
  • NM_001346898.2:c.2155G>C
  • NM_001346899.1:c.2020G>C
  • NM_001346900.2:c.1996G>C
  • NM_001346941.2:c.1354G>C
  • NM_005228.5:c.2155G>CMANE SELECT
  • NP_001333826.1:p.Gly674Arg
  • NP_001333827.1:p.Gly719Arg
  • NP_001333828.1:p.Gly674Arg
  • NP_001333829.1:p.Gly666Arg
  • NP_001333870.1:p.Gly452Arg
  • NP_005219.2:p.Gly719Arg
  • NP_005219.2:p.Gly719Arg
  • LRG_304t1:c.2155G>C
  • LRG_304:g.159983G>C
  • LRG_304p1:p.Gly719Arg
  • NC_000007.13:g.55241707G>C
  • NM_005228.3:c.2155G>C
  • c.2155G>C
Protein change:
G452R
Links:
dbSNP: rs28929495
NCBI 1000 Genomes Browser:
rs28929495
Molecular consequence:
  • NM_001346897.2:c.2020G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346898.2:c.2155G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346899.1:c.2020G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346900.2:c.1996G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001346941.2:c.1354G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005228.5:c.2155G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Non-small cell lung cancer (NSCLC)
Synonyms:
Non-small cell lung carcinoma
Identifiers:
MONDO: MONDO:0005233; MeSH: D002289; MedGen: C0007131; Human Phenotype Ontology: HP:0030358

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000062051Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicineno assertion criteria providedLikely pathogenic
(Aug 10, 2009)
somaticclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot provided11not providednot providednot providedclinical testing

Citations

PubMed

Mutations in the tyrosine kinase domain of the epidermal growth factor receptor in non-small cell lung cancer.

Yang SH, Mechanic LE, Yang P, Landi MT, Bowman ED, Wampfler J, Meerzaman D, Hong KM, Mann F, Dracheva T, Fukuoka J, Travis W, Caporaso NE, Harris CC, Jen J.

Clin Cancer Res. 2005 Mar 15;11(6):2106-10. Erratum in: Clin Cancer Res. 2005 Nov 1;11(21):7960-1.

PubMed [citation]
PMID:
15788655

EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy.

Paez JG, Jänne PA, Lee JC, Tracy S, Greulich H, Gabriel S, Herman P, Kaye FJ, Lindeman N, Boggon TJ, Naoki K, Sasaki H, Fujii Y, Eck MJ, Sellers WR, Johnson BE, Meyerson M.

Science. 2004 Jun 4;304(5676):1497-500. Epub 2004 Apr 29.

PubMed [citation]
PMID:
15118125
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000062051.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot provided1not provided1not provided

Last Updated: Oct 16, 2021

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