Annotation Detail

Information
Associated Genes
ERBB2
Associated Variants
ERBB2 p.Asp769Tyr (p.D769Y) ( ENST00000584601.5, ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5 )
ERBB2 p.Asp769Tyr (p.D769Y) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 )
Source Database
ClinVar
Description
NM_004448.4(ERBB2):c.2305G>T (p.Asp769Tyr) AND Transitional cell carcinoma of the bladder
ClinVar Allele ID
362871
ClinVar RefSeq Alternation Syntax
NM_001382784.1:c.2422G>T
ClinVar RefSeq Alternation Syntax
NM_001382798.1:c.2305G>T
ClinVar RefSeq Alternation Syntax
NM_001382787.1:c.2380G>T
ClinVar RefSeq Alternation Syntax
NM_001005862.3:c.2215G>T
ClinVar RefSeq Alternation Syntax
NM_001382796.1:c.2305G>T
ClinVar RefSeq Alternation Syntax
NM_001382797.1:c.2208+348G>T
ClinVar RefSeq Alternation Syntax
NM_001382786.1:c.2386G>T
ClinVar RefSeq Alternation Syntax
NM_001289937.2:c.2305G>T
ClinVar RefSeq Alternation Syntax
NM_001382801.1:c.2257G>T
ClinVar RefSeq Alternation Syntax
NM_001382785.1:c.2407G>T
ClinVar RefSeq Alternation Syntax
NM_001382791.1:c.2296G>T
ClinVar RefSeq Alternation Syntax
NM_004448.4:c.2305G>T
ClinVar RefSeq Alternation Syntax
NM_001382806.1:c.1267G>T
ClinVar RefSeq Alternation Syntax
NM_001382799.1:c.2125G>T
ClinVar RefSeq Alternation Syntax
NM_001382790.1:c.2302G>T
ClinVar RefSeq Alternation Syntax
NM_001382804.1:c.1477G>T
ClinVar RefSeq Alternation Syntax
NM_001382789.1:c.2326G>T
ClinVar RefSeq Alternation Syntax
NR_110535.2:n.2543G>T
ClinVar RefSeq Alternation Syntax
NM_001382795.1:c.2257G>T
ClinVar RefSeq Alternation Syntax
NM_001382805.1:c.2208+348G>T
ClinVar RefSeq Alternation Syntax
NM_001382793.1:c.2263G>T
ClinVar RefSeq Alternation Syntax
NM_001382794.1:c.2263G>T
ClinVar RefSeq Alternation Syntax
NM_001289936.2:c.2260G>T
ClinVar RefSeq Alternation Syntax
NM_001382788.1:c.2335G>T
ClinVar RefSeq Alternation Syntax
NM_001382800.1:c.2305G>T
ClinVar RefSeq Alternation Syntax
NM_001382783.1:c.2215G>T
ClinVar RefSeq Alternation Syntax
NM_001382792.1:c.2269G>T
ClinVar RefSeq Alternation Syntax
NM_001382803.1:c.2263G>T
ClinVar RefSeq Alternation Syntax
NM_001382782.1:c.2215G>T
ClinVar RefSeq Alternation Syntax
NM_001382802.1:c.2047G>T
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2016-05-31
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000418272
Observed Origin Sample
somatic
Drugs