chr3:10142113:T>C 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	chr3:10,183,797-10,183,797 View the variant detail on this assembly version.
hg38	chr3:10,142,113-10,142,113

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.266T>C	NP_000542.1:p.Leu89Pro
	NM_198156.2:c.266T>C	NP_937799.1:p.Leu89Pro
Ensemble	ENST00000256474.3:c.266T>C	ENST00000256474.3:p.Leu89Pro
	ENST00000345392.3:c.266T>C	ENST00000345392.3:p.Leu89Pro
	ENST00000696143.2:c.266T>C	ENST00000696143.2:p.Leu89Pro
	ENST00000696153.1:c.266T>C	ENST00000696153.1:p.Leu89Pro
	ENST00000713811.1:c.266T>C	ENST00000713811.1:p.Leu89Pro
	ENST00000713812.1:c.219+47T>C
	ENST00000713815.1:c.36+230T>C
	ENST00000713982.1:c.266T>C	ENST00000713982.1:p.Leu89Pro

Summary

MGeND

Clinical significance	Likely pathogenic Pathogenic
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	COSM14346	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	2019-03-07	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail
Pathogenic	2024-02-20	criteria provided, multiple submitters, no conflicts	Von Hippel-Lindau syndrome	germline unknown	Detail
Pathogenic	2023-11-21	criteria provided, single submitter	Von Hippel-Lindau syndrome,Chuvash polycythemia	germline	Detail
Pathogenic	2023-11-21	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	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	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	Rare Germline	2	25867206	Detail

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.125	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.658	Von Hippel-Lindau syndrome	Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from ...	UNIPROT	8956040	Detail

Annotation

Annotations

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
Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mu...	CIViC Evidence	Detail
53 patients with a molecularly confirmed VHL mutation and a pancreatic neuroendocrine tumor were col...	CIViC Evidence	Detail
Patients with ELSTs in the VHL registries of the participating centers in Europe were identified and...	CIViC Evidence	Detail
NM_000551.4(VHL):c.266T>C (p.Leu89Pro) AND Hereditary cancer-predisposing syndrome	ClinVar	Detail
NM_000551.4(VHL):c.266T>C (p.Leu89Pro) AND Von Hippel-Lindau syndrome	ClinVar	Detail
NM_000551.4(VHL):c.266T>C (p.Leu89Pro) AND multiple conditions	ClinVar	Detail
NM_000551.4(VHL):c.266T>C (p.Leu89Pro) AND multiple conditions	ClinVar	Detail
NA	DisGeNET	Detail
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europ...	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: rs5030807 dbSNP
Genome: hg38
Position: chr3:10,142,113-10,142,113
Variant Type: snv
Reference Allele: T
Alternative Allele: C
Variant (CIViC) (CIViC Variant): L89P (c.266T>C)
Transcript 1 (CIViC Variant): ENST0000
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1793

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