Annotation Detail

Information
Associated Genes
ERBB2
Associated Variants
ERBB2 p.Arg896Cys (p.R896C) ( ENST00000541774.5, ENST00000584601.5, ENST00000584450.5, ENST00000269571.10, ENST00000406381.6, ENST00000445658.6 )
ERBB2 p.Arg896Cys (p.R896C) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 )
Associated Disease
Breast neoplasm
Source Database
ClinVar
Description
NM_004448.4(ERBB2):c.2686C>T (p.Arg896Cys) AND Breast neoplasm
ClinVar Allele ID
362874
ClinVar RefSeq Alternation Syntax
NM_004448.4:c.2686C>T
ClinVar RefSeq Alternation Syntax
NR_110535.2:n.2924C>T
ClinVar RefSeq Alternation Syntax
NM_001382788.1:c.2716C>T
ClinVar RefSeq Alternation Syntax
NM_001382782.1:c.2596C>T
ClinVar RefSeq Alternation Syntax
NM_001382795.1:c.2638C>T
ClinVar RefSeq Alternation Syntax
NM_001382783.1:c.2596C>T
ClinVar RefSeq Alternation Syntax
NM_001382805.1:c.2208+1703C>T
ClinVar RefSeq Alternation Syntax
NM_001382792.1:c.2650C>T
ClinVar RefSeq Alternation Syntax
NM_001382803.1:c.2644C>T
ClinVar RefSeq Alternation Syntax
NM_001382799.1:c.2506C>T
ClinVar RefSeq Alternation Syntax
NM_001382801.1:c.2482C>T
ClinVar RefSeq Alternation Syntax
NM_001382804.1:c.1858C>T
ClinVar RefSeq Alternation Syntax
NM_001005862.3:c.2596C>T
ClinVar RefSeq Alternation Syntax
NM_001382796.1:c.2686C>T
ClinVar RefSeq Alternation Syntax
NM_001382793.1:c.2644C>T
ClinVar RefSeq Alternation Syntax
NM_001382791.1:c.2677C>T
ClinVar RefSeq Alternation Syntax
NM_001289936.2:c.2641C>T
ClinVar RefSeq Alternation Syntax
NM_001382794.1:c.2644C>T
ClinVar RefSeq Alternation Syntax
NM_001382785.1:c.2788C>T
ClinVar RefSeq Alternation Syntax
NM_001382787.1:c.2761C>T
ClinVar RefSeq Alternation Syntax
NM_001382789.1:c.2707C>T
ClinVar RefSeq Alternation Syntax
NM_001382797.1:c.2587C>T
ClinVar RefSeq Alternation Syntax
NM_001382790.1:c.2683C>T
ClinVar RefSeq Alternation Syntax
NM_001382784.1:c.2803C>T
ClinVar RefSeq Alternation Syntax
NM_001382798.1:c.2530C>T
ClinVar RefSeq Alternation Syntax
NM_001382802.1:c.2428C>T
ClinVar RefSeq Alternation Syntax
NM_001382806.1:c.1648C>T
ClinVar RefSeq Alternation Syntax
NM_001382786.1:c.2767C>T
ClinVar RefSeq Alternation Syntax
NM_001382800.1:c.2500C>T
ClinVar RefSeq Alternation Syntax
NM_001289937.2:c.2686C>T
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2014-10-02
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000424169
ClinVar Disease
Breast neoplasm
Observed Origin Sample
somatic
Drugs