NM_004448.4(ERBB2):c.2326_2327insTGT (p.Gly776delinsValCys) AND Non-small cell lung carcinoma

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 30, 2011
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000038127.6

Allele description [Variation Report for NM_004448.4(ERBB2):c.2326_2327insTGT (p.Gly776delinsValCys)]

NM_004448.4(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_004448.4(ERBB2):c.2326_2327insTGT (p.Gly776delinsValCys)

HGVS:

NC_000017.11:g.39724744_39724745insTGT
NG_007503.1:g.41605_41606insTGT
NM_001005862.3:c.2236_2237insTGT
NM_001289936.2:c.2281_2282insTGT
NM_001289937.2:c.2326_2327insTGT
NM_001382782.1:c.2236_2237insTGT
NM_001382783.1:c.2236_2237insTGT
NM_001382784.1:c.2443_2444insTGT
NM_001382785.1:c.2428_2429insTGT
NM_001382786.1:c.2407_2408insTGT
NM_001382787.1:c.2401_2402insTGT
NM_001382788.1:c.2356_2357insTGT
NM_001382789.1:c.2347_2348insTGT
NM_001382790.1:c.2323_2324insTGT
NM_001382791.1:c.2317_2318insTGT
NM_001382792.1:c.2290_2291insTGT
NM_001382793.1:c.2284_2285insTGT
NM_001382794.1:c.2284_2285insTGT
NM_001382795.1:c.2278_2279insTGT
NM_001382796.1:c.2326_2327insTGT
NM_001382797.1:c.2227_2228insTGT
NM_001382798.1:c.2326_2327insTGT
NM_001382799.1:c.2146_2147insTGT
NM_001382800.1:c.2308-305_2308-304insTGT
NM_001382801.1:c.2278_2279insTGT
NM_001382802.1:c.2068_2069insTGT
NM_001382803.1:c.2284_2285insTGT
NM_001382804.1:c.1498_1499insTGT
NM_001382805.1:c.2208+1084_2208+1085insTGT
NM_001382806.1:c.1288_1289insTGT
NM_004448.4:c.2326_2327insTGTMANE SELECT
NP_001005862.1:p.Gly746delinsValCys
NP_001276865.1:p.Gly761delinsValCys
NP_001276866.1:p.Gly776delinsValCys
NP_001369711.1:p.Gly746delinsValCys
NP_001369712.1:p.Gly746delinsValCys
NP_001369713.1:p.Gly815delinsValCys
NP_001369714.1:p.Gly810delinsValCys
NP_001369715.1:p.Gly803delinsValCys
NP_001369716.1:p.Gly801delinsValCys
NP_001369717.1:p.Gly786delinsValCys
NP_001369718.1:p.Gly783delinsValCys
NP_001369719.1:p.Gly775delinsValCys
NP_001369720.1:p.Gly773delinsValCys
NP_001369721.1:p.Gly764delinsValCys
NP_001369722.1:p.Gly762delinsValCys
NP_001369723.1:p.Gly762delinsValCys
NP_001369724.1:p.Gly760delinsValCys
NP_001369725.1:p.Gly776delinsValCys
NP_001369726.1:p.Gly743delinsValCys
NP_001369727.1:p.Gly776delinsValCys
NP_001369728.1:p.Gly716delinsValCys
NP_001369730.1:p.Gly760delinsValCys
NP_001369731.1:p.Gly690delinsValCys
NP_001369732.1:p.Gly762delinsValCys
NP_001369733.1:p.Gly500delinsValCys
NP_001369735.1:p.Gly430delinsValCys
NP_004439.2:p.Gly776delinsValCys
LRG_724:g.41605_41606insTGT
NC_000017.10:g.37880997_37880998insTGT
NM_004448.2:c.2326_2327insTGT
NR_110535.2:n.2564_2565insTGT
c.2326_2327insTGT

Links:

dbSNP: rs397516979

NCBI 1000 Genomes Browser:

rs397516979

Molecular consequence:

NM_001005862.3:c.2236_2237insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001289936.2:c.2281_2282insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001289937.2:c.2326_2327insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382782.1:c.2236_2237insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382783.1:c.2236_2237insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382784.1:c.2443_2444insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382785.1:c.2428_2429insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382786.1:c.2407_2408insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382787.1:c.2401_2402insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382788.1:c.2356_2357insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382789.1:c.2347_2348insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382790.1:c.2323_2324insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382791.1:c.2317_2318insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382792.1:c.2290_2291insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382793.1:c.2284_2285insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382794.1:c.2284_2285insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382795.1:c.2278_2279insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382796.1:c.2326_2327insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382797.1:c.2227_2228insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382798.1:c.2326_2327insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382799.1:c.2146_2147insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382801.1:c.2278_2279insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382802.1:c.2068_2069insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382803.1:c.2284_2285insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382804.1:c.1498_1499insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382806.1:c.1288_1289insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_004448.4:c.2326_2327insTGT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001382800.1:c.2308-305_2308-304insTGT - intron variant - [Sequence Ontology: SO:0001627]
NM_001382805.1:c.2208+1084_2208+1085insTGT - intron variant - [Sequence Ontology: SO:0001627]
NR_110535.2:n.2564_2565insTGT - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Non-small cell lung carcinoma (NSCLC)
Synonyms:: Non-small cell lung cancer
Identifiers:: MONDO: MONDO:0005233; MeSH: D002289; MedGen: C0007131; Human Phenotype Ontology: HP:0030358

Recent activity

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alpha subunit of arsenite oxidase, partial [Variovorax sp. iCE035s]
alpha subunit of arsenite oxidase, partial [Variovorax sp. iCE035s]
gi|891166599|dbj|BAS01216.1|

Protein
GAB1 [Moschus berezovskii]
GAB1 [Moschus berezovskii]
Gene ID:129542786

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000061793	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely pathogenic (Jun 30, 2011)	somatic	clinical testing	PubMed (3) [See all records that cite these PMIDs] 15753357, 16863509, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000061793

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely pathogenic
(Jun 30, 2011)

somatic

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	not provided	3	3	not provided	not provided	not provided	clinical 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
PMCID:: PMC11158750

See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061793.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	not provided	not provided	not provided	not provided		3	not provided	3	not provided

Last Updated: Jul 16, 2023

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