chr3:10142103:C>G Detail (hg38) (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	chr3:10,183,787-10,183,787 View the variant detail on this assembly version.
hg38	chr3:10,142,103-10,142,103

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.256C>G	NP_000542.1:p.Pro86Ala
	NM_198156.2:c.256C>G	NP_937799.1:p.Pro86Ala
Ensemble	ENST00000256474.3:c.256C>G	ENST00000256474.3:p.Pro86Ala
	ENST00000345392.3:c.256C>G	ENST00000345392.3:p.Pro86Ala
	ENST00000696143.2:c.256C>G	ENST00000696143.2:p.Pro86Ala
	ENST00000696153.1:c.256C>G	ENST00000696153.1:p.Pro86Ala
	ENST00000713811.1:c.256C>G	ENST00000713811.1:p.Pro86Ala
	ENST00000713812.1:c.219+37C>G
	ENST00000713815.1:c.36+220C>G
	ENST00000713982.1:c.256C>G	ENST00000713982.1:p.Pro86Ala

Summary

MGeND

Clinical significance	Likely pathogenic Pathogenic
Variant entry	3
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	COSM36324	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Likely pathogenic		other	germline	MGS000001 (TMGS000138)	Kenjiro Kosaki	Keio University
Pathogenic		other phakomatoses, not elsewhere classified	germline	MGS000077 (TMGS000152)	Kenji Tamura	Kochi University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2016-01-29	criteria provided, single submitter	Von Hippel-Lindau syndrome	germline	Detail
Pathogenic	2013-07-02	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2019-11-12	criteria provided, single submitter	Von Hippel-Lindau syndrome,Chuvash polycythemia	germline	Detail
Pathogenic	2019-11-12	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	2	25867206	Detail

DisGeNET

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

Annotation

Annotations

Descrption	Source	Links
Patients with ELSTs in the VHL registries of the participating centers in Europe were identified and...	CIViC Evidence	Detail
NM_000551.4(VHL):c.256C>G (p.Pro86Ala) AND Von Hippel-Lindau syndrome	ClinVar	Detail
NM_000551.4(VHL):c.256C>G (p.Pro86Ala) AND not provided	ClinVar	Detail
NM_000551.4(VHL):c.256C>G (p.Pro86Ala) AND multiple conditions	ClinVar	Detail
NM_000551.4(VHL):c.256C>G (p.Pro86Ala) 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: rs398123481 dbSNP
Genome: hg38
Position: chr3:10,142,103-10,142,103
Variant Type: snv
Reference Allele: C
Alternative Allele: G
Variant (CIViC) (CIViC Variant): P86A (c.256C>G)
Transcript 1 (CIViC Variant): ENST00000256474.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1759

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