NM_005228.5(EGFR):c.2320_2321insGCCACG (p.Val774_Cys775insGlyHis) AND Non-small cell lung cancer

Clinical significance:Likely pathogenic (Last evaluated: Mar 1, 2008)

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:
RCV000038419.2

Allele description [Variation Report for NM_005228.5(EGFR):c.2320_2321insGCCACG (p.Val774_Cys775insGlyHis)]

NM_005228.5(EGFR):c.2320_2321insGCCACG (p.Val774_Cys775insGlyHis)

Genes:
EGFR-AS1:EGFR antisense RNA 1 [Gene - HGNC]
EGFR:epidermal growth factor receptor [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
7p11.2
Genomic location:
Preferred name:
NM_005228.5(EGFR):c.2320_2321insGCCACG (p.Val774_Cys775insGlyHis)
HGVS:
  • NC_000007.14:g.55181329_55181330insGCCACG
  • NG_007726.3:g.167298_167299insGCCACG
  • NM_001346897.2:c.2185_2186insGCCACG
  • NM_001346898.2:c.2320_2321insGCCACG
  • NM_001346899.1:c.2185_2186insGCCACG
  • NM_001346900.2:c.2161_2162insGCCACG
  • NM_001346941.2:c.1519_1520insGCCACG
  • NM_005228.5:c.2320_2321insGCCACGMANE SELECT
  • NP_001333826.1:p.Val729_Cys730insGlyHis
  • NP_001333827.1:p.Val774_Cys775insGlyHis
  • NP_001333828.1:p.Val729_Cys730insGlyHis
  • NP_001333829.1:p.Val721_Cys722insGlyHis
  • NP_001333870.1:p.Val507_Cys508insGlyHis
  • NP_005219.2:p.Val774_Cys775insGlyHis
  • LRG_304t1:c.2320_2321insGCCACG
  • LRG_304:g.167298_167299insGCCACG
  • NC_000007.13:g.55249022_55249023insGCCACG
  • NM_005228.3:c.2320_2321insGCCACG
  • NR_047551.1:n.1246_1247insCCGTGG
  • c.2320_2321insGCCACG
Links:
dbSNP: rs1554350366
NCBI 1000 Genomes Browser:
rs1554350366
Molecular consequence:
  • NM_001346897.2:c.2185_2186insGCCACG - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001346898.2:c.2320_2321insGCCACG - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001346899.1:c.2185_2186insGCCACG - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001346900.2:c.2161_2162insGCCACG - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001346941.2:c.1519_1520insGCCACG - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_005228.5:c.2320_2321insGCCACG - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NR_047551.1:n.1246_1247insCCGTGG - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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
SCV000062091Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicineno assertion criteria providedLikely pathogenic
(Mar 1, 2008)
somaticclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot provided11not providednot providednot providedclinical testing

Citations

PubMed

Oncogenic transformation by inhibitor-sensitive and -resistant EGFR mutants.

Greulich H, Chen TH, Feng W, Jänne PA, Alvarez JV, Zappaterra M, Bulmer SE, Frank DA, Hahn WC, Sellers WR, Meyerson M.

PLoS Med. 2005 Nov;2(11):e313. Epub 2005 Oct 4.

PubMed [citation]
PMID:
16187797
PMCID:
PMC1240052

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000062091.2

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

Last Updated: Jul 7, 2021

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