NM_004448.3(ERBB2):c.2326_2327insTGT (p.Gly776delinsValCys) AND Non-small cell lung cancer

Clinical significance:Likely pathogenic (Last evaluated: Jun 30, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000038127.3

Allele description [Variation Report for NM_004448.3(ERBB2):c.2326_2327insTGT (p.Gly776delinsValCys)]

NM_004448.3(ERBB2):c.2326_2327insTGT (p.Gly776delinsValCys)

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.2326_2327insTGT (p.Gly776delinsValCys)
HGVS:
  • NC_000017.11:g.39724744_39724745insTGT
  • NG_007503.1:g.41605_41606insTGT
  • NM_001005862.2:c.2236_2237insTGT
  • NM_001289936.1:c.2281_2282insTGT
  • NM_001289937.1:c.2326_2327insTGT
  • NM_004448.3:c.2326_2327insTGT
  • NP_001005862.1:p.Gly746delinsValCys
  • NP_001276865.1:p.Gly761delinsValCys
  • NP_001276866.1:p.Gly776delinsValCys
  • NP_004439.2:p.Gly776delinsValCys
  • LRG_724t1:c.2236_2237insTGT
  • LRG_724t2:c.2326_2327insTGT
  • LRG_724t4:c.2281_2282insTGT
  • LRG_724:g.41605_41606insTGT
  • LRG_724p1:p.Gly746delinsValCys
  • LRG_724p2:p.Gly776delinsValCys
  • LRG_724p4:p.Gly761delinsValCys
  • NC_000017.10:g.37880997_37880998insTGT
  • NM_004448.2:c.2326_2327insTGT
  • NR_110535.1:n.2650_2651insTGT
  • c.2326_2327insTGT
Links:
dbSNP: rs397516979
NCBI 1000 Genomes Browser:
rs397516979
Molecular consequence:
  • NM_001005862.2:c.2236_2237insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001289936.1:c.2281_2282insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001289937.1:c.2326_2327insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_004448.3:c.2326_2327insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
  • NR_110535.1:n.2650_2651insTGT - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
3

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
SCV000061793Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely pathogenic
(Jun 30, 2011)
somaticclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot provided33not providednot providednot providedclinical testing

Citations

PubMed

Somatic mutations of the HER2 kinase domain in lung adenocarcinomas.

Shigematsu H, Takahashi T, Nomura M, Majmudar K, Suzuki M, Lee H, Wistuba II, Fong KM, Toyooka S, Shimizu N, Fujisawa T, Minna JD, Gazdar AF.

Cancer Res. 2005 Mar 1;65(5):1642-6.

PubMed [citation]
PMID:
15753357

EGFR point mutation in non-small cell lung cancer is occasionally accompanied by a second mutation or amplification.

Yokoyama T, Kondo M, Goto Y, Fukui T, Yoshioka H, Yokoi K, Osada H, Imaizumi K, Hasegawa Y, Shimokata K, Sekido Y.

Cancer Sci. 2006 Aug;97(8):753-9.

PubMed [citation]
PMID:
16863509
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000061793.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot provided3not provided3not provided

Last Updated: Jul 7, 2021

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