chr3:10149921:C>T Detail (hg38) (VHL, LOC107303340)

Information

Genome

Assembly Position
hg19 chr3:10,191,605-10,191,605 View the variant detail on this assembly version.
hg38 chr3:10,149,921-10,149,921

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.598C>T NP_000542.1:p.Arg200Trp
NM_198156.2:c.475C>T NP_937799.1:p.Arg159Trp
Ensemble ENST00000256474.3:c.598C>T ENST00000256474.3:p.Arg200Trp
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 tgv249079953 TogoVar
COSMIC COSM18024 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 2023-03-23 criteria provided, multiple submitters, no conflicts Chuvash polycythemia germline Detail
Uncertain significance 2023-08-15 criteria provided, single submitter not specified germline Detail
Conflicting interpretations of pathogenicity 2024-02-05 criteria provided, conflicting interpretations Von Hippel-Lindau syndrome germline unknown Detail
Conflicting interpretations of pathogenicity 2023-02-02 criteria provided, conflicting interpretations not provided germline Detail
Pathogenic 2022-03-31 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2024-01-31 criteria provided, single submitter Von Hippel-Lindau syndrome,Chuvash polycythemia germline Detail
Pathogenic 2024-01-31 criteria provided, single submitter Von Hippel-Lindau syndrome,Chuvash polycythemia germline Detail
Pathogenic 2017-01-20 criteria provided, single submitter Acute leukemia of ambiguous lineage germline Detail
Pathogenic 2022-05-04 criteria provided, single submitter nonpapillary renal cell carcinoma germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
familial erythrocytosis 2 Ruxolitinib C Predictive Supports Sensitivity/Response Rare Germline 4 27518686 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.658 Von Hippel-Lindau syndrome NA CLINVAR Detail
0.125 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.560 ERYTHROCYTOSIS, FAMILIAL, 2 NA CLINVAR Detail
0.015 polycythemia Mutations in exon 3 of the VHL gene lead to Chuvash (VHL(R200W)) and Croatian (V... BeFree 24729484 Detail
0.658 Von Hippel-Lindau syndrome The gene associated with von Hippel-Lindau syndrome, VHL, maps to this region, a... BeFree 12415268 Detail
0.658 Von Hippel-Lindau syndrome We evaluated the role of VHL in 8 children with a history of polycythemia and an... UNIPROT 12393546 Detail
<0.001 polycythemia This observation contrasts with a report suggesting that polycythemia in VHL R20... BeFree 23403324 Detail
0.149 polycythemia This observation contrasts with a report suggesting that polycythemia in VHL R20... BeFree 23403324 Detail
0.015 polycythemia The gene associated with von Hippel-Lindau syndrome, VHL, maps to this region, a... BeFree 12415268 Detail
0.015 polycythemia A homozygous mutation (C598T-&gt;Arg200Trp) in the von Hippel-Lindau (VHL) gene ... BeFree 15642664 Detail
0.560 ERYTHROCYTOSIS, FAMILIAL, 2 Mutations in the VHL gene in sporadic apparently congenital polycythemia. UNIPROT 12393546 Detail
Annotation

Annotations

DescrptionSourceLinks
Homozygous VHL R200W mutations result in a rare congenital polycythemia known as Chuvash polycythemi... CIViC Evidence Detail
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) AND Chuvash polycythemia ClinVar Detail
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) AND not specified ClinVar Detail
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) AND Von Hippel-Lindau syndrome ClinVar Detail
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) AND not provided ClinVar Detail
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) AND Acute leukemia of ambiguous lineage ClinVar Detail
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) AND Nonpapillary renal cell carcinoma ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mutations in exon 3 of the VHL gene lead to Chuvash (VHL(R200W)) and Croatian (VHL(H191D)) polycythe... DisGeNET Detail
The gene associated with von Hippel-Lindau syndrome, VHL, maps to this region, and homozygosity with... DisGeNET Detail
We evaluated the role of VHL in 8 children with a history of polycythemia and an elevated serum Epo ... DisGeNET Detail
This observation contrasts with a report suggesting that polycythemia in VHL R200W and H191D homozyg... DisGeNET Detail
This observation contrasts with a report suggesting that polycythemia in VHL R200W and H191D homozyg... DisGeNET Detail
The gene associated with von Hippel-Lindau syndrome, VHL, maps to this region, and homozygosity with... DisGeNET Detail
A homozygous mutation (C598T-&gt;Arg200Trp) in the von Hippel-Lindau (VHL) gene was originally ident... DisGeNET Detail
Mutations in the VHL gene in sporadic apparently congenital polycythemia. 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
rs28940298 dbSNP
Genome
hg38
Position
chr3:10,149,921-10,149,921
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8612
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)
119812
Allele Counts in All Race (ExAC)
28
Heterozygous Counts in All Race (ExAC)
28
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.3369946249123628E-4
Variant (CIViC) (CIViC Variant)
R200W (c.598C>T)
Transcript 1 (CIViC Variant)
ENST00000256474.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/631
Genome browser