ERBB2

CIViC ID: 20 · Entrez: 2064

Aliases: CD340,HER-2,HER-2/neu,HER2,MLN 19,NEU,NGL,TKR1,ERBB2,VSCN2,c-ERB-2,c-ERB2,MLN-19,p185(erbB2)

Description

ERBB2, commonly referred to as HER2, is amplified and/or overexpressed in 20-30% of invasive breast carcinomas. HER2-positive breast cancer is treated in a separate manner from other subtypes of breast cancer and commonly presents as more aggressive disease. Metastatic HER2-positive breast cancer is now commonly treated with HER2-targeted therapy. Apart from being amplified/overexpressed, ERBB2 activating mutations have been shown to have clinical importance in HER2-negative breast cancer. These mutations have shown sensitivity to the tyrosine kinase inhibitor neratinib, and highlight the importance of clinical sequencing efforts in treating breast cancer.

Cyan = gene · Slate = variant · Green = drug · Click variant to filter table

Variants (44)

CIViC ID	Name	HGVS	Type(s)
4723	A775_G776insTVMA
4724	A775_G776insV
4725	A775_G776insVVMA
4485	A775_G776insYVMA
2657	Activating Mutation		gene_variant,gain_of_function_variant
306	Amplification OVEREXPRESSION		transcript_amplification
35	D769H ASP769HIS,D739H,D754H,ASP739HIS,ASP754HIS,D769H,RS121913468	NM_001289937.1:c.2305G>C,NP_001276866.1:p.Asp769His,ENST00000269571.5:c.2305G>C,NC_000017.10:g.37880261G>C	missense_variant
36	D769Y D739Y,D754Y,RS121913468,ASP769TYR,D769Y,ASP754TYR,ASP739TYR	ENST00000269571.5:c.2305G>T,NC_000017.10:g.37880261G>T,NM_004448.3:c.2305G>T,NP_004439.2:p.Asp769Tyr	missense_variant
2854	Exon 20 Insertion
38	G309A GLY309ALA,GLY279ALA,GLY294ALA,G294A,G279A,RS1057519787	ENST00000269571.5:c.926G>C,NC_000017.10:g.37868205G>C,NM_004448.3:c.926G>C,NP_004439.2:p.Gly309Ala	missense_variant
816	G776L GLY776LEU	ENST00000269571.5:c.2326_2327delinsCT,NC_000017.10:g.37880997_37880998delinsCT,NP_001276866.1:p.Gly776Leu,NM_001289937.1:c.2326_2327delinsCT	missense_variant
4470	G776V
4726	G776_V777delinsVCD
4727	G776delinsCV
4728	G776delinsLC
4489	G776delinsVC
4486	G778_P780dup
4729	G778_S779insLPS
874	H878Y HIS878TYR	ENST00000269571.5:c.2632C>T,NC_000017.10:g.37881440C>T,NM_001289937.1:c.2632C>T,NP_001276866.1:p.His878Tyr	missense_variant
413	Kinase Domain Mutation		protein_altering_variant
4670	L755A
4673	L755M
1304	L755P LEU755PRO	NP_004439.2:p.Leu755Pro,NM_004448.3:c.2263_2264delinsCC,NC_000017.13:g.37880219_37880220delinsCC,ENST00000269571.5:c.2263_2264delinsCC	missense_variant
39	L755S LEU755SER,L725S,L740S	NC_000017.10:g.37880220T>C,ENST00000269571.5:c.2264T>C,NM_004448.3:c.2264T>C,NP_004439.2:p.Leu755Ser	missense_variant
40	L755W LEU755TRP,L725W,L740W,RS121913470	ENST00000269571.5:c.2264T>G,NC_000017.10:g.37880220T>G,NM_004448.3:c.2264T>G,NP_004439.2:p.Leu755Trp	missense_variant
37	L755_T759del RS1131692241,LEU755_THR759DEL	ENST00000269571.5:c.2263_2277del,NC_000017.10:g.37880219_37880233del,NP_004439.2:p.Leu755_Thr759del,NM_004448.3:c.2263_2277delTTGAGGGAAAACACA	inframe_deletion
496	L866M LEU866MET	ENST00000269571.5:c.2596C>A,NC_000017.10:g.37881404C>A,NM_001289937.1:c.2596C>A,NP_001276866.1:p.Leu866Met	missense_variant
818	M774DELINSWLV	NC_000017.11:g.39724738delinsTGGCTGG,NC_000017.10:g.37880991delinsTGGCTGG,NM_004448.4:c.2320delinsTGGCTGG,ENST00000269571.10:c.2320delinsTGGCTGG,NP_004439.2:p.Met774delinsTrpLeuVal,ENSP00000269571.4:p.Met774delinsTrpLeuVal	inframe_indel
666	Mutation		missense_variant
873	N857S ASN857SER,N827S,N842S,RS28933370	NC_000017.10:g.37881378A>G,NP_004439.2:p.Asn857Ser,NM_004448.3:c.2570A>G,ENST00000269571.5:c.2570A>G	missense_variant
875	Overexpression
5249	P780_Y781insGSP
42	R678Q ARG678GLN,R648Q,R663Q,RS1057519862	ENST00000269571.5:c.2033G>A,NC_000017.10:g.37879658G>A,NM_004448.3:c.2033G>A,NP_004439.2:p.Arg678Gln	missense_variant
43	R896C ARG896CYS,R866C,R881C,RS758222990	NC_000017.10:g.37881616C>T,ENST00000269571.5:c.2686C>T,NM_004448.3:c.2686C>T,NP_004439.2:p.Arg896Cys	missense_variant
4492	S310F
497	S310F/Y	ENST00000269571.5:c.929C>T,NC_000017.10:g.37868208C>T	missense_variant
416	SERUM LEVELS
2331	T798I THR798ILE	ENST00000269571.5:c.2393C>T,NC_000017.10:g.37881064C>T,NM_001289937.1:c.2393C>T,NP_001276866.1:p.Thr798Ile	missense_variant
1305	T798M THR798MET	ENST00000269571.5:c.2393_2394delCAinsTG,NC_000017.10:g.37881064_37881065delinsTG,NM_004448.3:c.2393_2394delinsTG,NP_004439.2:p.Thr798Met	missense_variant
871	T862A THR862ALA	ENST00000269571.5:c.2584A>G,NC_000017.10:g.37881392A>G,NM_001289937.1:c.2584A>G,NP_001276866.1:p.Thr862Ala	missense_variant
872	V773A VAL773ALA	ENST00000269571.5:c.2318T>C,NC_000017.10:g.37880989T>C,NM_004448.3:c.2318T>C,NP_004439.2:p.Val773Ala	missense_variant
44	V777L V747L,V762L,VAL777LEU,RS121913471	NM_004448.3:c.2329G>T,NP_004439.2:p.Val777Leu,ENST00000269571.5:c.2329G>T,NC_000017.10:g.37881000G>T	missense_variant
45	V842I VAL842ILE,V812I,V827I,VAL812ILE,VAL827ILE,RS1057519738	ENST00000269571.5:c.2524G>A,NM_004448.3:c.2524G>A,NP_004439.2:p.Val842Ile,NC_000017.10:g.37881332G>A	missense_variant
414	Y772_A775DUP A775INSYVMA,P.A775_G776INSYVMA,P.E770_A771INSAYVM,TYR772_ALA775DUP,A775_G776INSYVMA,M774INSAYVM	NC_000017.10:g.37880993_37880994insGCTTACGTGATG,NM_001005862.2:c.2224_2235dupTACGTGATGGCT,ENST00000269571.5:c.2314_2325dupTACGTGATGGCT,NC_000017.10:g.37880985_37880996dupTACGTGATGGCT	inframe_insertion

Loading variants…