NM_005228.5(EGFR):c.2193G>A (p.Trp731Ter) AND Non-small cell lung cancer

Clinical significance:Likely pathogenic (Last evaluated: Jul 14, 2015)

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:
RCV000444748.1

Allele description [Variation Report for NM_005228.5(EGFR):c.2193G>A (p.Trp731Ter)]

NM_005228.5(EGFR):c.2193G>A (p.Trp731Ter)

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.2193G>A (p.Trp731Ter)
HGVS:
  • NC_000007.14:g.55174730G>A
  • NG_007726.3:g.160699G>A
  • NM_001346897.2:c.2058G>A
  • NM_001346898.2:c.2193G>A
  • NM_001346899.2:c.2058G>A
  • NM_001346900.2:c.2034G>A
  • NM_001346941.2:c.1392G>A
  • NM_005228.5:c.2193G>AMANE SELECT
  • NP_001333826.1:p.Trp686Ter
  • NP_001333827.1:p.Trp731Ter
  • NP_001333828.1:p.Trp686Ter
  • NP_001333829.1:p.Trp678Ter
  • NP_001333870.1:p.Trp464Ter
  • NP_005219.2:p.Trp731Ter
  • LRG_304:g.160699G>A
  • NC_000007.13:g.55242423G>A
Protein change:
W464*
Links:
dbSNP: rs121913467
NCBI 1000 Genomes Browser:
rs121913467
Molecular consequence:
  • NM_001346897.2:c.2058G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001346898.2:c.2193G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001346899.2:c.2058G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001346900.2:c.2034G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001346941.2:c.1392G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005228.5:c.2193G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000505563Database of Curated Mutations (DoCM)no assertion criteria providedLikely pathogenic
(Jul 14, 2015)
somaticliterature only

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

MacConaill LE, Garcia E, Shivdasani P, Ducar M, Adusumilli R, Breneiser M, Byrne M, Chung L, Conneely J, Crosby L, Garraway LA, Gong X, Hahn WC, Hatton C, Kantoff PW, Kluk M, Kuo F, Jia Y, Joshi R, Longtine J, Manning A, Palescandolo E, et al.

J Mol Diagn. 2014 Nov;16(6):660-72. doi: 10.1016/j.jmoldx.2014.06.004. Epub 2014 Aug 23.

PubMed [citation]
PMID:
25157968
PMCID:
PMC4210463

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505563.1

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

Last Updated: Oct 24, 2021

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