NM_004448.3(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup) AND Lung adenocarcinoma

Clinical significance:Pathogenic (Last evaluated: Sep 30, 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:
RCV000014889.5

Allele description [Variation Report for NM_004448.3(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup)]

NM_004448.3(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup)

Gene:
ERBB2:erb-b2 receptor tyrosine kinase 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_004448.3(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup)
Other names:
p.Tyr772_Ala775dup
HGVS:
  • NC_000017.11:g.39724731_39724742dup
  • NG_007503.1:g.41592_41603dup
  • NM_001005862.2:c.2223_2234dup
  • NM_001289936.1:c.2268_2279dup
  • NM_001289937.1:c.2313_2324dup
  • NM_004448.3:c.2313_2324dup
  • NP_001005862.1:p.Tyr742_Ala745dup
  • NP_001276865.1:p.Tyr757_Ala760dup
  • NP_001276866.1:p.Tyr772_Ala775dup
  • NP_004439.2:p.Tyr772_Ala775dup
  • LRG_724t1:c.2223_2234dup
  • LRG_724t2:c.2313_2324dup
  • LRG_724t4:c.2268_2279dup
  • LRG_724:g.41592_41603dup
  • LRG_724p1:p.Tyr742_Ala745dup
  • LRG_724p2:p.Tyr772_Ala775dup
  • LRG_724p4:p.Tyr757_Ala760dup
  • NC_000017.10:g.37880984_37880995dup
  • NC_000017.10:g.37880995_37880996insATACGTGATGGC
  • NR_110535.1:n.2637_2648dup
  • c.2311_2322dup
  • c.2313_2324dup
Nucleotide change:
INS/DUP, NT2322
Links:
OMIM: 164870.0003; dbSNP: rs397516975
NCBI 1000 Genomes Browser:
rs397516975
Molecular consequence:
  • NM_001005862.2:c.2223_2234dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001289936.1:c.2268_2279dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001289937.1:c.2313_2324dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_004448.3:c.2313_2324dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NR_110535.1:n.2637_2648dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Lung adenocarcinoma
Synonyms:
Adenocarcinoma of lung; Adenocarcinoma of lung, somatic
Identifiers:
MONDO: MONDO:0005061; MeSH: D000077192; MedGen: C0152013; Human Phenotype Ontology: HP:0030078

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000035144OMIMno assertion criteria providedPathogenic
(Sep 30, 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

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

Details of each submission

From OMIM, SCV000035144.2

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

Description

In a nonsmall cell lung cancer (adenocarcinoma) (211980), the Cancer Genome Project and Collaborative Group (2004) identified an insertion/duplication of GCATACGTGATG at nucleotide 2322 of the ERBB2 gene, resulting in a 4-amino acid insertion (AYVM) at codon 774. This mutation was not identified in DNA from normal tissue. The same insertion was found in tumor tissue only from another individual, and also in tumor tissue from a third individual from whom no normal tissue was available for comparison.

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

Last Updated: Jul 7, 2021

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