chr3:10146516:C>T Detail (hg38) (VHL, LOC107303340)

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

Genome

Assembly	Position
hg19	chr3:10,188,200-10,188,200 View the variant detail on this assembly version.
hg38	chr3:10,146,516-10,146,516

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.343C>T	NP_000542.1:p.His115Tyr
	NM_198156.2:c.341-3271C>T
Ensemble	ENST00000713982.1:c.341-93C>T
	ENST00000256474.3:c.343C>T	ENST00000256474.3:p.His115Tyr
	ENST00000345392.3:c.341-3271C>T
	ENST00000696143.2:c.*18-3271C>T
	ENST00000696153.1:c.343C>T	ENST00000696153.1:p.His115Tyr
	ENST00000713811.1:c.343C>T	ENST00000713811.1:p.His115Tyr
	ENST00000713812.1:c.222C>T	ENST00000713812.1:p.Val74=
	ENST00000713815.1:c.39C>T	ENST00000713815.1:p.Val13=

Summary

MGeND

Clinical significance	Likely pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

VHL

Type	Database	ID	Link
Gene	MIM	608537	OMIM
	HGNC	12687	HGNC
	Ensembl	ENSG00000134086	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM14375	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Likely pathogenic		other	germline	MGS000001 (TMGS000138)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-11-16	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	2	21463266	Detail
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	2	8707293	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.658	Von Hippel-Lindau syndrome	Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from ...	UNIPROT	8956040	Detail

Annotation

Annotations

Descrption	Source	Links
In a study of 426 unrelated VHL patients, 111 were discovered to have alterations in the VHL gene. 1...	CIViC Evidence	Detail
Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mu...	CIViC Evidence	Detail
NM_000551.4(VHL):c.343C>T (p.His115Tyr) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europ...	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: -
Genome: hg38
Position: chr3:10,146,516-10,146,516
Variant Type: snv
Reference Allele: C
Alternative Allele: T
Variant (CIViC) (CIViC Variant): H115Y (c.343C>T)
Transcript 1 (CIViC Variant): ENST00000256474.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1921

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