chr3:10188302:G>T Detail (hg19) (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	chr3:10,188,302-10,188,302
hg38	chr3:10,146,618-10,146,618 View the variant detail on this assembly version.

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.445G>T	NP_000542.1:p.Ala149Ser
	NM_198156.2:c.341-3169G>T
Ensemble	ENST00000256474.3:c.445G>T	ENST00000256474.3:p.Ala149Ser
	ENST00000345392.3:c.341-3169G>T
	ENST00000696143.2:c.*18-3169G>T
	ENST00000696153.1:c.445G>T	ENST00000696153.1:p.Ala149Ser
	ENST00000713811.1:c.445G>T	ENST00000713811.1:p.Ala149Ser
	ENST00000713812.1:c.324G>T	ENST00000713812.1:p.Leu108Phe
	ENST00000713815.1:c.141G>T	ENST00000713815.1:p.Leu47Phe
	ENST00000713982.1:c.350G>T	ENST00000713982.1:p.Cys117Phe

Summary

MGeND

Clinical significance
Variant entry
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2013-10-21	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2019-01-03	criteria provided, single submitter	Von Hippel-Lindau syndrome	germline	Detail
Pathogenic	2015-09-20	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2020-12-06	criteria provided, single submitter	Von Hippel-Lindau syndrome,Chuvash polycythemia	germline	Detail
Pathogenic	2020-12-06	criteria provided, single submitter	Von Hippel-Lindau syndrome,Chuvash polycythemia	germline	Detail

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	4	9435426	Detail
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	3	23673869	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.125	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
Study of a large kindred with von Hippel-Lindau disease (VHLD) and pheochromocytoma (spread over fou...	CIViC Evidence	Detail
49 family members from three generations of a Turkish family were examined. A clinical presentation ...	CIViC Evidence	Detail
NM_000551.4(VHL):c.445G>T (p.Ala149Ser) AND not provided	ClinVar	Detail
NM_000551.4(VHL):c.445G>T (p.Ala149Ser) AND Von Hippel-Lindau syndrome	ClinVar	Detail
NM_000551.4(VHL):c.445G>T (p.Ala149Ser) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000551.4(VHL):c.445G>T (p.Ala149Ser) AND multiple conditions	ClinVar	Detail
NM_000551.4(VHL):c.445G>T (p.Ala149Ser) AND multiple conditions	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: rs587780077 dbSNP
Genome: hg19
Position: chr3:10,188,302-10,188,302
Variant Type: snv
Reference Allele: G
Alternative Allele: T
Variant (CIViC) (CIViC Variant): A149S (c.445G>T)
Transcript 1 (CIViC Variant): ENST00000256474.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/820

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