chr3:10191492:G>T Detail (hg19) (VHL, LOC107303340)

Information

Genome

Assembly Position
hg19 chr3:10,191,492-10,191,492
hg38 chr3:10,149,808-10,149,808 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.485G>T NP_000542.1:p.Cys162Phe
NM_198156.2:c.362G>T NP_937799.1:p.Cys121Phe
Ensemble ENST00000256474.3:c.485G>T ENST00000256474.3:p.Cys162Phe
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 Pathogenic
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
COSMIC COSM25676 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 2023-10-18 criteria provided, multiple submitters, no conflicts Von Hippel-Lindau syndrome germline Detail
Pathogenic 2022-06-27 criteria provided, single submitter Von Hippel-Lindau syndrome,Chuvash polycythemia germline Detail
Pathogenic 2022-06-27 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 4 7728151 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 2 9829911 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 2 21463266 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 1 26763786 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.658 Von Hippel-Lindau syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detec... CIViC Evidence Detail
Germline mutations were found in all 93 families that fulfilled clinical criteria of VHL disease. Mu... CIViC Evidence Detail
In a study of 426 unrelated VHL patients, 111 were discovered to have alterations in the VHL gene. 1... CIViC Evidence Detail
A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy... CIViC Evidence Detail
NM_000551.4(VHL):c.485G>T (p.Cys162Phe) AND Von Hippel-Lindau syndrome ClinVar Detail
NM_000551.4(VHL):c.485G>T (p.Cys162Phe) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.485G>T (p.Cys162Phe) 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
rs397516444 dbSNP
Genome
hg19
Position
chr3:10,191,492-10,191,492
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8644
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)
121042
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.261595148791329E-6
Variant (CIViC) (CIViC Variant)
C162F (c.485G>T)
Transcript 1 (CIViC Variant)
ENST00000256474.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1773
Genome browser