chr17:39725125:A>G 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	chr17:37,881,378-37,881,378 View the variant detail on this assembly version.
hg38	chr17:39,725,125-39,725,125

HGVS

ERBB2

Type	Transcript	Protein
RefSeq	NM_004448.3:c.2570A>G	NP_004439.2:p.Asn857Ser
	NM_001289937.1:c.2570A>G	NP_001276866.1:p.Asn857Ser
	NM_001005862.2:c.2480A>G	NP_001005862.1:p.Asn827Ser
	NM_001289936.1:c.2480A>G	NP_001276865.1:p.Asn827Ser
Ensemble	ENST00000269571.10:c.2570A>G	ENST00000269571.10:p.Asn857Ser
	ENST00000406381.6:c.2480A>G	ENST00000406381.6:p.Asn827Ser
	ENST00000445658.6:c.1742A>G	ENST00000445658.6:p.Asn581Ser
	ENST00000541774.5:c.2525A>G	ENST00000541774.5:p.Asn842Ser
	ENST00000584450.5:c.2570A>G	ENST00000584450.5:p.Asn857Ser
	ENST00000584601.5:c.2480A>G	ENST00000584601.5:p.Asn827Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

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
	COSMIC	COSM686	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2004-09-30	no assertion criteria provided	Neoplasm of ovary	somatic	Detail
Likely pathogenic	2016-05-13	no assertion criteria provided	Ovarian adenocarcinoma	somatic	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
ovarian cancer	Lapatinib	D	Predictive	Supports	Sensitivity/Response	Somatic	3	22046346	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.279	ovarian neoplasm	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
Cell proliferation analysis showed that the ERBB2-H878Y mutant had the highest sensitivity against l...	CIViC Evidence	Detail
NM_004448.4(ERBB2):c.2570A>G (p.Asn857Ser) AND Neoplasm of ovary	ClinVar	Detail
NM_004448.4(ERBB2):c.2570A>G (p.Asn857Ser) AND Ovarian adenocarcinoma	ClinVar	Detail
NA	DisGeNET	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: rs28933370 dbSNP
Genome: hg38
Position: chr17:39,725,125-39,725,125
Variant Type: snv
Reference Allele: A
Alternative Allele: G
Variant (CIViC) (CIViC Variant): N857S
Transcript 1 (CIViC Variant): ENST00000269571.5
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/873

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