NM_004448.4(ERBB2):c.2331_2339dup (p.Gly778_Pro780dup) AND Non-small cell lung carcinoma

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 24, 2013
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:: RCV000038131.5

Allele description [Variation Report for NM_004448.4(ERBB2):c.2331_2339dup (p.Gly778_Pro780dup)]

NM_004448.4(ERBB2):c.2331_2339dup (p.Gly778_Pro780dup)

Gene:

ERBB2:erb-b2 receptor tyrosine kinase 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_004448.4(ERBB2):c.2331_2339dup (p.Gly778_Pro780dup)

Other names:

p.Pro780_Tyr781insGlySerPro

HGVS:

NC_000017.11:g.39724749_39724757dup
NG_007503.1:g.41610_41618dup
NM_001005862.3:c.2241_2249dup
NM_001289936.2:c.2286_2294dup
NM_001289937.2:c.2331_2339dup
NM_001382782.1:c.2241_2249dup
NM_001382783.1:c.2241_2249dup
NM_001382784.1:c.2448_2456dup
NM_001382785.1:c.2433_2441dup
NM_001382786.1:c.2412_2420dup
NM_001382787.1:c.2406_2414dup
NM_001382788.1:c.2361_2369dup
NM_001382789.1:c.2352_2360dup
NM_001382790.1:c.2328_2336dup
NM_001382791.1:c.2322_2330dup
NM_001382792.1:c.2295_2303dup
NM_001382793.1:c.2289_2297dup
NM_001382794.1:c.2289_2297dup
NM_001382795.1:c.2283_2291dup
NM_001382796.1:c.2331_2339dup
NM_001382797.1:c.2232_2240dup
NM_001382798.1:c.2331_2339dup
NM_001382799.1:c.2151_2159dup
NM_001382800.1:c.2308-300_2308-292dup
NM_001382801.1:c.2283_2291dup
NM_001382802.1:c.2073_2081dup
NM_001382803.1:c.2289_2297dup
NM_001382804.1:c.1503_1511dup
NM_001382805.1:c.2208+1089_2208+1097dup
NM_001382806.1:c.1293_1301dup
NM_004448.4:c.2331_2339dupMANE SELECT
NP_001005862.1:p.Gly748_Pro750dup
NP_001276865.1:p.Gly763_Pro765dup
NP_001276866.1:p.Gly778_Pro780dup
NP_001369711.1:p.Gly748_Pro750dup
NP_001369712.1:p.Gly748_Pro750dup
NP_001369713.1:p.Gly817_Pro819dup
NP_001369714.1:p.Gly812_Pro814dup
NP_001369715.1:p.Gly805_Pro807dup
NP_001369716.1:p.Gly803_Pro805dup
NP_001369717.1:p.Gly788_Pro790dup
NP_001369718.1:p.Gly785_Pro787dup
NP_001369719.1:p.Gly777_Pro779dup
NP_001369720.1:p.Gly775_Pro777dup
NP_001369721.1:p.Gly766_Pro768dup
NP_001369722.1:p.Gly764_Pro766dup
NP_001369723.1:p.Gly764_Pro766dup
NP_001369724.1:p.Gly762_Pro764dup
NP_001369725.1:p.Gly778_Pro780dup
NP_001369726.1:p.Gly745_Pro747dup
NP_001369727.1:p.Gly778_Pro780dup
NP_001369728.1:p.Gly718_Pro720dup
NP_001369730.1:p.Gly762_Pro764dup
NP_001369731.1:p.Gly692_Pro694dup
NP_001369732.1:p.Gly764_Pro766dup
NP_001369733.1:p.Gly502_Pro504dup
NP_001369735.1:p.Gly432_Pro434dup
NP_004439.2:p.Gly778_Pro780dup
LRG_724:g.41610_41618dup
NC_000017.10:g.37881002_37881010dup
NC_000017.10:g.37881010_37881011insGGGCTCCCC
NM_004448.2:c.2331_2339dupGGGCTCCCC
NM_004448.4:c.2331_2339dupGGGCTCCCCMANE SELECT
NR_110535.2:n.2569_2577dup
c.2331_2339dupGGGCTCCCC

Links:

dbSNP: rs397516981

NCBI 1000 Genomes Browser:

rs397516981

Molecular consequence:

NM_001005862.3:c.2241_2249dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001289936.2:c.2286_2294dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001289937.2:c.2331_2339dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382782.1:c.2241_2249dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382783.1:c.2241_2249dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382784.1:c.2448_2456dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382785.1:c.2433_2441dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382786.1:c.2412_2420dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382787.1:c.2406_2414dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382788.1:c.2361_2369dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382789.1:c.2352_2360dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382790.1:c.2328_2336dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382791.1:c.2322_2330dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382792.1:c.2295_2303dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382793.1:c.2289_2297dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382794.1:c.2289_2297dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382795.1:c.2283_2291dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382796.1:c.2331_2339dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382797.1:c.2232_2240dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382798.1:c.2331_2339dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382799.1:c.2151_2159dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382801.1:c.2283_2291dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382802.1:c.2073_2081dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382803.1:c.2289_2297dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382804.1:c.1503_1511dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382806.1:c.1293_1301dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_004448.4:c.2331_2339dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001382800.1:c.2308-300_2308-292dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001382805.1:c.2208+1089_2208+1097dup - intron variant - [Sequence Ontology: SO:0001627]
NR_110535.2:n.2569_2577dup - 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

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Arabidopsis thaliana tetratricopeptide repeat (TPR)-containing protein (TSK), mRNA
gi|1063712351|ref|NM_112759.5|

Nucleotide
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000061797	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Pathogenic (Jul 24, 2013)	somatic	clinical testing	PubMed (6) [See all records that cite these PMIDs] 15753357, 18334834, 22761469, 22325357, 16638863, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000061797

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Pathogenic
(Jul 24, 2013)

somatic

clinical testing

PubMed (6)
[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	2	2	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

siRNA targeting against EGFR, a promising candidate for a novel therapeutic application to lung adenocarcinoma.

Yamanaka S, Gu Z, Sato M, Fujisaki R, Inomata K, Sakurada A, Inoue A, Nukiwa T, Kondo T, Horii A.

Pathobiology. 2008;75(1):2-8. doi: 10.1159/000113789. Epub 2008 Mar 11.

PubMed [citation]

PMID:: 18334834

See all PubMed Citations (6)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061797.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (6)

Description

The c.2331_2339dupGGGCTCCCC variant in ERBB2 has previously been identified in m ulitple lung adenocarcinomas, including one patient who had a response to an Erb B family blocker (Shigematsu 2005, Han 2006, Yamanaka 2008, Arcila 2012, De Grev e 2012). Somatic ERBB2 variants have been identified in up to 9.8% of cases of lung adenocarcinoma (Cancer Genome Project and Collaborative Group 2004).

#	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		2	not provided	2	not provided

Last Updated: Aug 11, 2024

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