chr3:10146580:T>C Detail (hg38) (VHL, LOC107303340)

Go to:

Information

Genome

Assembly	Position
hg19	chr3:10,188,264-10,188,264 View the variant detail on this assembly version.
hg38	chr3:10,146,580-10,146,580

Summary

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

Links

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	COSM17996	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 Likely pathogenic	2023-07-19	criteria provided, multiple submitters, no conflicts	Von Hippel-Lindau syndrome	germline	Detail
Pathogenic	2016-11-17	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2022-11-02	criteria provided, single submitter	Chuvash polycythemia,Von Hippel-Lindau syndrome	germline	Detail
Pathogenic	2022-11-02	criteria provided, single submitter	Chuvash polycythemia,Von Hippel-Lindau syndrome	germline	Detail

CIViC

Disease	EL	ET	ED	CS	VO	TR	Pubmed	Links
von Hippel-Lindau disease	C	Predisposing	Supports	Uncertain Significance	Rare Germline	3	7987306	Detail
von Hippel-Lindau disease	C	Predisposing	Supports	Uncertain Significance	Rare Germline	4	17024664	Detail
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	3	9829912	Detail
von Hippel-Lindau disease	C	Predisposing	Supports	Uncertain Significance	Rare Germline	3	12624160	Detail
von Hippel-Lindau disease	C	Predisposing	Supports	Uncertain Significance	Rare Germline	3	24132471	Detail
von Hippel-Lindau disease	C	Predisposing	Supports	Uncertain Significance	Rare Germline	1	26763786	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.416	pheochromocytoma	Almost one fourth of patients with apparently sporadic pheochromocytoma may be c...	UNIPROT	12000816	Detail
0.658	Von Hippel-Lindau syndrome	The group of susceptibility genes for pheochromocytoma that included the proto-o...	UNIPROT	12000816	Detail

Annotation

Descrption	Source	Links
An investigation of 94 VHL patients without large deletions for intragenic mutations revealed 40 dif...	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
Germline mutations were found in 20 Brazilian, VHL probands and their families. This missense mutati...	CIViC Evidence	Detail
Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. One patient ...	CIViC Evidence	Detail
A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy...	CIViC Evidence	Detail
NM_000551.4(VHL):c.407T>C (p.Phe136Ser) AND Von Hippel-Lindau syndrome	ClinVar	Detail
NM_000551.4(VHL):c.407T>C (p.Phe136Ser) AND not provided	ClinVar	Detail
NM_000551.4(VHL):c.407T>C (p.Phe136Ser) AND multiple conditions	ClinVar	Detail
NM_000551.4(VHL):c.407T>C (p.Phe136Ser) AND multiple conditions	ClinVar	Detail
Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations...	DisGeNET	Detail
The group of susceptibility genes for pheochromocytoma that included the proto-oncogene RET (associa...	DisGeNET	Detail

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs5030833 dbSNP
Genome: hg38
Position: chr3:10,146,580-10,146,580
Variant Type: snv
Reference Allele: T
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8654
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121412
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.236418146476461E-6
Variant (CIViC) (CIViC Variant): F136S (c.407T>C)
Transcript 1 (CIViC Variant): ENST
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1801

Genome browser