NM_004448.3(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup) AND Non-small cell lung cancer

Clinical significance:Likely pathogenic (Last evaluated: May 15, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000038123.2

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]
Observations:
36

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
SCV000061789Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely pathogenic
(May 15, 2012)
somaticclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot provided3736not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000061789.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided37not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot provided37not provided36not provided

Last Updated: Jul 7, 2021

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