chr17:39725363:C>T Detail (hg38) (ERBB2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr17:37,881,616-37,881,616 View the variant detail on this assembly version.
hg38	chr17:39,725,363-39,725,363

HGVS

ERBB2

Type	Transcript	Protein
RefSeq	NM_004448.3:c.2686C>T	NP_004439.2:p.Arg896Cys
	NM_001289937.1:c.2686C>T	NP_001276866.1:p.Arg896Cys
	NM_001005862.2:c.2596C>T	NP_001005862.1:p.Arg866Cys
	NM_001289936.1:c.2596C>T	NP_001276865.1:p.Arg866Cys
Ensemble	ENST00000269571.10:c.2686C>T	ENST00000269571.10:p.Arg896Cys
	ENST00000406381.6:c.2596C>T	ENST00000406381.6:p.Arg866Cys
	ENST00000445658.6:c.1858C>T	ENST00000445658.6:p.Arg620Cys
	ENST00000541774.5:c.2641C>T	ENST00000541774.5:p.Arg881Cys
	ENST00000584450.5:c.2686C>T	ENST00000584450.5:p.Arg896Cys
	ENST00000584601.5:c.2596C>T	ENST00000584601.5:p.Arg866Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:0.003
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

ERBB2

Type	Database	ID	Link
Gene	MIM	164870	OMIM
	HGNC	3430	HGNC
	Ensembl	ENSG00000141736	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv57711052	TogoVar
	COSMIC	COSM5442107	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-10-02	no assertion criteria provided	Breast neoplasm	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
breast cancer	Neratinib	D	Predictive	Supports	Sensitivity/Response	Somatic	5	23220880	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
In MCF10A cell lines, the R896C mutation was shown to be sensitive to neratinib.	CIViC Evidence	Detail
NM_004448.4(ERBB2):c.2686C>T (p.Arg896Cys) AND Breast neoplasm	ClinVar	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs758222990 dbSNP
Genome: hg38
Position: chr17:39,725,363-39,725,363
Variant Type: snv
Reference Allele: C
Alternative Allele: T
Filtering Status (HGVD): PASS
Filtering Status (HGVD): LowQual
# of samples (HGVD): 1200
Mean of sample read depth (HGVD): 50.46
Standard deviation of sample read depth (HGVD): 23.44
Number of reference allele (HGVD): 2392
Number of alternative allele (HGVD): 8
Allele Frequency (HGVD): 0.0033333333333333335
Gene Symbol (HGVD): ERBB2
East Asian Chromosome Counts (ExAC): 8652
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121332
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.241848811525402E-6
Variant (CIViC) (CIViC Variant): R896C
Transcript 1 (CIViC Variant): ENST00000269571.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/43
Summary (CIViC Variant): ERBB2 R896C was one of the first ERBB2 variants to be functionally classified (Bose et al. 2013). This mutation was shown to be an activating mutation in an in vitro assay. In the same paper, this mutation (along with other ERBB2 activating mutations) in MCF10A breast cancer cell lines have been shown to be sensitive to the kinase inhibitor neratinib. More recent evidence may show that HER2 acitivating mutations confer sensitivity to a host of tyrosine kinase inhibitors, which is the topic of current clinical trials and research.

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