NM_004448.3(ERBB2):c.2324_2325insCTCCGTGATGGC (p.Gly776_Val777insSerValMetAla) AND Non-small cell lung cancer

Clinical significance:Likely pathogenic (Last evaluated: Feb 6, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000156384.1

Allele description [Variation Report for NM_004448.3(ERBB2):c.2324_2325insCTCCGTGATGGC (p.Gly776_Val777insSerValMetAla)]

NM_004448.3(ERBB2):c.2324_2325insCTCCGTGATGGC (p.Gly776_Val777insSerValMetAla)

Gene:
ERBB2:erb-b2 receptor tyrosine kinase 2 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_004448.3(ERBB2):c.2324_2325insCTCCGTGATGGC (p.Gly776_Val777insSerValMetAla)
HGVS:
  • NC_000017.11:g.39724742_39724743insCTCCGTGATGGC
  • NG_007503.1:g.41603_41604insCTCCGTGATGGC
  • NM_001005862.2:c.2234_2235insCTCCGTGATGGC
  • NM_001289936.1:c.2279_2280insCTCCGTGATGGC
  • NM_001289937.1:c.2324_2325insCTCCGTGATGGC
  • NM_004448.3:c.2324_2325insCTCCGTGATGGC
  • NP_001005862.1:p.Gly746_Val747insSerValMetAla
  • NP_001276865.1:p.Gly761_Val762insSerValMetAla
  • NP_001276866.1:p.Gly776_Val777insSerValMetAla
  • NP_004439.2:p.Gly776_Val777insSerValMetAla
  • LRG_724t1:c.2234_2235insCTCCGTGATGGC
  • LRG_724t2:c.2324_2325insCTCCGTGATGGC
  • LRG_724t4:c.2279_2280insCTCCGTGATGGC
  • LRG_724:g.41603_41604insCTCCGTGATGGC
  • LRG_724p1:p.Gly746_Val747insSerValMetAla
  • LRG_724p2:p.Gly776_Val777insSerValMetAla
  • LRG_724p4:p.Gly761_Val762insSerValMetAla
  • NC_000017.10:g.37880995_37880996insCTCCGTGATGGC
  • NM_004448.2:c.2324_2325insCTCCGTGATGGC
  • NR_110535.1:n.2648_2649insCTCCGTGATGGC
Links:
dbSNP: rs397516976
NCBI 1000 Genomes Browser:
rs397516976
Molecular consequence:
  • NM_001005862.2:c.2234_2235insCTCCGTGATGGC - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001289936.1:c.2279_2280insCTCCGTGATGGC - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001289937.1:c.2324_2325insCTCCGTGATGGC - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_004448.3:c.2324_2325insCTCCGTGATGGC - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NR_110535.1:n.2648_2649insCTCCGTGATGGC - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000206102Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely pathogenic
(Feb 6, 2014)
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

Prevalence, clinicopathologic associations, and molecular spectrum of ERBB2 (HER2) tyrosine kinase mutations in lung adenocarcinomas.

Arcila ME, Chaft JE, Nafa K, Roy-Chowdhuri S, Lau C, Zaidinski M, Paik PK, Zakowski MF, Kris MG, Ladanyi M.

Clin Cancer Res. 2012 Sep 15;18(18):4910-8. doi: 10.1158/1078-0432.CCR-12-0912. Epub 2012 Jul 3.

PubMed [citation]
PMID:
22761469
PMCID:
PMC3865806

Lung cancer: intragenic ERBB2 kinase mutations in tumours.

Stephens P, Hunter C, Bignell G, Edkins S, Davies H, Teague J, Stevens C, O'Meara S, Smith R, Parker A, Barthorpe A, Blow M, Brackenbury L, Butler A, Clarke O, Cole J, Dicks E, Dike A, Drozd A, Edwards K, Forbes S, Foster R, et al.

Nature. 2004 Sep 30;431(7008):525-6.

PubMed [citation]
PMID:
15457249
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000206102.3

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

Last Updated: Jul 7, 2021

Support Center