chr3:10183739:G>T Detail (hg19) (VHL)

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

Genome

Assembly	Position
hg19	chr3:10,183,739-10,183,739
hg38	chr3:10,142,055-10,142,055 View the variant detail on this assembly version.

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_198156.2:c.208G>T	NP_937799.1:p.Glu70Ter
	NM_000551.3:c.208G>T	NP_000542.1:p.Glu70Ter
Ensemble	ENST00000345392.3:c.208G>T	ENST00000345392.3:p.Glu70Ter
	ENST00000256474.3:c.208G>T	ENST00000256474.3:p.Glu70Ter
	ENST00000713815.1:c.36+172G>T
	ENST00000713982.1:c.208G>T	ENST00000713982.1:p.Glu70Ter
	ENST00000696143.2:c.208G>T	ENST00000696143.2:p.Glu70Ter
	ENST00000696153.1:c.208G>T	ENST00000696153.1:p.Glu70Ter
	ENST00000713811.1:c.208G>T	ENST00000713811.1:p.Glu70Ter
	ENST00000713812.1:c.208G>T	ENST00000713812.1:p.Glu70Ter

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	COSM17711	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	2014-10-03	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2017-10-03	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2018-08-01	criteria provided, single submitter	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	9829911	Detail
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	2	8707293	Detail
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	Rare Germline	2	20660572	Detail
von Hippel-Lindau disease		C	Predisposing	Supports	Uncertain Significance	N/A	4	7728151	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.658	Von Hippel-Lindau syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
Germline mutations were found in all 93 families that fulfilled clinical criteria of VHL disease. Mu...	CIViC Evidence	Detail
Of 65 VHL families from central Europe, 53 were identified with germline mutations. This nonsense mu...	CIViC Evidence	Detail
53 patients with a molecularly confirmed VHL mutation and a pancreatic neuroendocrine tumor were col...	CIViC Evidence	Detail
In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detec...	CIViC Evidence	Detail
NM_000551.4(VHL):c.208G>T (p.Glu70Ter) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000551.4(VHL):c.208G>T (p.Glu70Ter) AND not provided	ClinVar	Detail
NM_000551.4(VHL):c.208G>T (p.Glu70Ter) AND Von Hippel-Lindau 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: rs5030802 dbSNP
Genome: hg19
Position: chr3:10,183,739-10,183,739
Variant Type: snv
Reference Allele: G
Alternative Allele: T
Variant (CIViC) (CIViC Variant): E70* (c.208G>T)
Transcript 1 (CIViC Variant): ENST00000256474.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1834

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