chr3:10149965:A>T Detail (hg38) (VHL, LOC107303340)

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

Genome

Assembly	Position
hg19	chr3:10,191,649-10,191,649 View the variant detail on this assembly version.
hg38	chr3:10,149,965-10,149,965

HGVS

VHL

Type	Transcript	Protein
RefSeq	NM_000551.3:c.642A>T	NP_000542.1:p.Ter214Cysext*?
	NM_198156.2:c.519A>T	NP_937799.1:p.Ter173Cysext*?
Ensemble	ENST00000256474.3:c.642A>T	ENST00000256474.3:p.Ter214Cysext*?
	ENST00000345392.3:c.519A>T	ENST00000345392.3:p.Ter173Cysext*?
	ENST00000696143.2:c.*196A>T
	ENST00000696153.1:c.753A>T	ENST00000696153.1:p.Ter251Cysext*?
	ENST00000713811.1:c.*124A>T
	ENST00000713812.1:c.*167A>T
	ENST00000713815.1:c.*167A>T
	ENST00000713982.1:c.*124A>T

Summary

MGeND

Clinical significance	Likely pathogenic
Variant entry	4
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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	COSM144977	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Likely pathogenic	2020/06/07	adrenal gland	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/06/07	spinal cord	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/06/07	other digestive organs	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan
Likely pathogenic	2020/06/07	other	germline	MGS000029 (TMGS000133)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely 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	2	20560986	Detail

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
This paper identified run-on mutations in 5 members of 4 distinct families. More specifically, genet...	CIViC Evidence	Detail
NM_000551.4(VHL):c.642A>T (p.Ter214Cys) AND Von Hippel-Lindau syndrome	ClinVar	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: rs1559430011 dbSNP
Genome: hg38
Position: chr3:10,149,965-10,149,965
Variant Type: snv
Reference Allele: A
Alternative Allele: T
Variant (CIViC) (CIViC Variant): *214C (c.642A>T)
Transcript 1 (CIViC Variant): ENST00000256474.2
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1988

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