NM_004448.3(ERBB2):c.2320del (p.Met774fs) AND Non-small cell lung cancer

Clinical significance:Likely pathogenic (Last evaluated: Nov 10, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000038125.2

Allele description [Variation Report for NM_004448.3(ERBB2):c.2320del (p.Met774fs)]

NM_004448.3(ERBB2):c.2320del (p.Met774fs)

Gene:
ERBB2:erb-b2 receptor tyrosine kinase 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q12
Genomic location:
Preferred name:
NM_004448.3(ERBB2):c.2320del (p.Met774fs)
HGVS:
  • NC_000017.11:g.39724738del
  • NG_007503.1:g.41599del
  • NM_001005862.2:c.2230del
  • NM_001289936.1:c.2275del
  • NM_001289937.1:c.2320del
  • NM_004448.3:c.2320del
  • NP_001005862.1:p.Met744fs
  • NP_001276865.1:p.Met759fs
  • NP_001276866.1:p.Met774fs
  • NP_004439.2:p.Met774fs
  • LRG_724t1:c.2230del
  • LRG_724t2:c.2320del
  • LRG_724t4:c.2275del
  • LRG_724:g.41599del
  • LRG_724p1:p.Met744fs
  • LRG_724p2:p.Met774fs
  • LRG_724p4:p.Met759fs
  • NC_000017.10:g.37880991del
  • NC_000017.10:g.37880991delA
  • NM_004448.2:c.2320delA
  • NR_110535.1:n.2644del
  • c.2320delA
  • p.Met774TrpfsX17
Protein change:
M744fs
Links:
dbSNP: rs397516978
NCBI 1000 Genomes Browser:
rs397516978
Molecular consequence:
  • NM_001005862.2:c.2230del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001289936.1:c.2275del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001289937.1:c.2320del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004448.3:c.2320del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_110535.1:n.2644del - 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
SCV000061791Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely pathogenic
(Nov 10, 2011)
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

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, SCV000061791.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The Met774fs variant has not been previously reported nor previously identified by our laboratory. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 774 and leads to a prematu re stop codon 17 amino acids downstream. This alteration is then predicted to le ad to a truncated or absent protein. Somatic ERBB2 variants have been identified in up to 9.8% of cases of lung adenocarcinoma (Cancer Genome Project and Collab orative Group 2004).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot provided1not provided1not provided

Last Updated: Jul 7, 2021

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