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

Germline classification:
Likely pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003996362.1

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]

Condition(s)

Name:
Lung adenocarcinoma
Synonyms:
Adenocarcinoma of lung; Adenocarcinoma of lung, somatic
Identifiers:
MONDO: MONDO:0005061; MeSH: D000077192; MedGen: C0152013; Human Phenotype Ontology: HP:0030078

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004042739Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University
no assertion criteria provided
Likely pathogenicsomaticclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University, SCV004042739.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 11, 2024