Annotation Detail

Information
Associated Genes
ERBB2
Associated Variants
ERBB2 p.Gly778_Pro780dup (p.G778_P780dup) ( ENST00000584450.5, ENST00000406381.6, ENST00000584601.5, ENST00000541774.5, ENST00000269571.10, ENST00000445658.6 )
ERBB2 p.Gly778_Pro780dup (p.G778_P780dup) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 )
Associated Disease
Non-small cell lung carcinoma
Source Database
ClinVar
Description
NM_004448.4(ERBB2):c.2332_2340dup (p.Gly778_Pro780dup) AND Non-small cell lung carcinoma
Observed Origin Sample
somatic
ClinVar Allele ID
54160
ClinVar RefSeq Alternation Syntax
NM_001382791.1:c.2323_2331dup
ClinVar RefSeq Alternation Syntax
NM_001382792.1:c.2296_2304dup
ClinVar RefSeq Alternation Syntax
NM_001382801.1:c.2284_2292dup
ClinVar RefSeq Alternation Syntax
NM_004448.4:c.2332_2340dup
ClinVar RefSeq Alternation Syntax
NM_001382785.1:c.2434_2442dup
ClinVar RefSeq Alternation Syntax
NM_001382798.1:c.2332_2340dup
ClinVar RefSeq Alternation Syntax
NM_001382793.1:c.2290_2298dup
ClinVar RefSeq Alternation Syntax
NM_001289937.2:c.2332_2340dup
ClinVar RefSeq Alternation Syntax
NM_001382784.1:c.2449_2457dup
ClinVar RefSeq Alternation Syntax
NR_110535.2:n.2570_2578dup
ClinVar RefSeq Alternation Syntax
NM_001005862.3:c.2242_2250dup
ClinVar RefSeq Alternation Syntax
NM_001382802.1:c.2074_2082dup
ClinVar RefSeq Alternation Syntax
NM_001382783.1:c.2242_2250dup
ClinVar RefSeq Alternation Syntax
NM_001382796.1:c.2332_2340dup
ClinVar RefSeq Alternation Syntax
NM_001382789.1:c.2353_2361dup
ClinVar RefSeq Alternation Syntax
NM_001382804.1:c.1504_1512dup
ClinVar RefSeq Alternation Syntax
NM_001382795.1:c.2284_2292dup
ClinVar RefSeq Alternation Syntax
NM_001382806.1:c.1294_1302dup
ClinVar RefSeq Alternation Syntax
NM_001382800.1:c.2308-299_2308-291dup
ClinVar RefSeq Alternation Syntax
NM_001289936.2:c.2287_2295dup
ClinVar RefSeq Alternation Syntax
NM_001382790.1:c.2329_2337dup
ClinVar RefSeq Alternation Syntax
NM_001382786.1:c.2413_2421dup
ClinVar RefSeq Alternation Syntax
NM_001382788.1:c.2362_2370dup
ClinVar RefSeq Alternation Syntax
NM_001382803.1:c.2290_2298dup
ClinVar RefSeq Alternation Syntax
NM_001382805.1:c.2208+1090_2208+1098dup
ClinVar RefSeq Alternation Syntax
NM_001382797.1:c.2233_2241dup
ClinVar RefSeq Alternation Syntax
NM_001382782.1:c.2242_2250dup
ClinVar RefSeq Alternation Syntax
NM_001382787.1:c.2407_2415dup
ClinVar RefSeq Alternation Syntax
NM_001382799.1:c.2152_2160dup
ClinVar RefSeq Alternation Syntax
NM_001382794.1:c.2290_2298dup
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2013-03-06
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000038132
ClinVar Disease
Non-small cell lung carcinoma
Drugs