chr3:10191489:G>A 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	chr3:10,191,489-10,191,489
hg38	chr3:10,149,805-10,149,805 View the variant detail on this assembly version.

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.482G>A	NP_000542.1:p.Arg161Gln
	NM_198156.2:c.359G>A	NP_937799.1:p.Arg120Gln
Ensemble	ENST00000256474.3:c.482G>A	ENST00000256474.3:p.Arg161Gln
	ENST00000345392.3:c.359G>A	ENST00000345392.3:p.Arg120Gln
	ENST00000696143.2:c.*36G>A
	ENST00000696153.1:c.593G>A	ENST00000696153.1:p.Arg198Gln
	ENST00000713811.1:c.597G>A	ENST00000713811.1:p.Ala199=
	ENST00000713812.1:c.*7G>A
	ENST00000713815.1:c.*7G>A
	ENST00000713982.1:c.387G>A	ENST00000713982.1:p.Ala129=

Summary

MGeND

Clinical significance	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	COSM18097	COSMIC
	MONDO

Disease area statistics

MGeND

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

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2020-12-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-05-21	criteria provided, multiple submitters, no conflicts	Von Hippel-Lindau syndrome	germline	Detail
Pathogenic	2023-10-23	criteria provided, single submitter	Chuvash polycythemia,Von Hippel-Lindau syndrome	germline	Detail
Pathogenic	2023-10-23	criteria provided, single submitter	Chuvash polycythemia,Von Hippel-Lindau syndrome	germline	Detail
Pathogenic	2021-12-07	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	4	7728151	Detail
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	3	9829911	Detail
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	3	17024664	Detail
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	3	21463266	Detail
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	3	9829912	Detail
adrenal gland pheochromocytoma		C	Predisposing	Supports	Uncertain Significance	Rare Germline	3	12000816	Detail
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	2	20660572	Detail
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	2	20846682	Detail
von Hippel-Lindau disease		B	Predisposing	N/A	N/A	Rare Germline	3	11850829	Detail

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detec...	CIViC Evidence	Detail
Germline mutations were found in all 93 families that fulfilled clinical criteria of VHL disease. Mu...	CIViC Evidence	Detail
Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of ...	CIViC Evidence	Detail
In a study of 426 unrelated VHL patients, 111 were discovered to have alterations in the VHL gene. 1...	CIViC Evidence	Detail
Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found...	CIViC Evidence	Detail
Peripheral blood from unrelated patients with pheochromocytoma was tested for mutations of proto-onc...	CIViC Evidence	Detail
53 patients with a molecularly confirmed VHL mutation and a pancreatic neuroendocrine tumor were col...	CIViC Evidence	Detail
26 VHL patients, from 18 families, who had undergone a partial adrenalectomy for pheochromocytoma we...	CIViC Evidence	Detail
36 VHL-related pheochromocytomas (from 21 patients) and 10 VHL-related CNS hemangioblastomas (from 6...	CIViC Evidence	Detail
NM_000551.4(VHL):c.482G>A (p.Arg161Gln) AND not provided	ClinVar	Detail
NM_000551.4(VHL):c.482G>A (p.Arg161Gln) AND Von Hippel-Lindau syndrome	ClinVar	Detail
NM_000551.4(VHL):c.482G>A (p.Arg161Gln) AND multiple conditions	ClinVar	Detail
NM_000551.4(VHL):c.482G>A (p.Arg161Gln) AND multiple conditions	ClinVar	Detail
NM_000551.4(VHL):c.482G>A (p.Arg161Gln) AND Hereditary cancer-predisposing syndrome	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: rs730882035 dbSNP
Genome: hg19
Position: chr3:10,191,489-10,191,489
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Variant (CIViC) (CIViC Variant): R161Q (c.482G>A)
Transcript 1 (CIViC Variant): ENST00000256474.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1746

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