chr3:10146561:G>C Detail (hg38) (VHL, LOC107303340)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr3:10,188,245-10,188,245 View the variant detail on this assembly version.
hg38	chr3:10,146,561-10,146,561

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.388G>C	NP_000542.1:p.Val130Leu
	NM_198156.2:c.341-3226G>C
Ensemble	ENST00000256474.3:c.388G>C	ENST00000256474.3:p.Val130Leu
	ENST00000345392.3:c.341-3226G>C
	ENST00000696143.2:c.*18-3226G>C
	ENST00000696153.1:c.388G>C	ENST00000696153.1:p.Val130Leu
	ENST00000713811.1:c.388G>C	ENST00000713811.1:p.Val130Leu
	ENST00000713812.1:c.267G>C	ENST00000713812.1:p.Trp89Cys
	ENST00000713815.1:c.84G>C	ENST00000713815.1:p.Trp28Cys
	ENST00000713982.1:c.341-48G>C

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
Show details

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	COSM14407	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	2003-08-01	no assertion criteria provided	Chuvash polycythemia	germline	Detail
Pathogenic	2011-08-18	criteria provided, single submitter	Von Hippel-Lindau syndrome	germline	Detail
Pathogenic	2018-07-21	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2023-10-13	criteria provided, single submitter	Chuvash polycythemia,Von Hippel-Lindau syndrome	germline	Detail
Pathogenic	2023-10-13	criteria provided, single submitter	Chuvash polycythemia,Von Hippel-Lindau 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	3	9829912	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.658	Von Hippel-Lindau syndrome	NA	CLINVAR		Detail
0.560	ERYTHROCYTOSIS, FAMILIAL, 2	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found...	CIViC Evidence	Detail
NM_000551.4(VHL):c.388G>C (p.Val130Leu) AND Chuvash polycythemia	ClinVar	Detail
NM_000551.4(VHL):c.388G>C (p.Val130Leu) AND Von Hippel-Lindau syndrome	ClinVar	Detail
NM_000551.4(VHL):c.388G>C (p.Val130Leu) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000551.4(VHL):c.388G>C (p.Val130Leu) AND multiple conditions	ClinVar	Detail
NM_000551.4(VHL):c.388G>C (p.Val130Leu) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	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: rs104893830 dbSNP
Genome: hg38
Position: chr3:10,146,561-10,146,561
Variant Type: snv
Reference Allele: G
Alternative Allele: C
Variant (CIViC) (CIViC Variant): V130L (c.388G>C)
Transcript 1 (CIViC Variant): ENST00000256474.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1970

Genome browser