chr3:10183725:C>G Detail (hg19) (VHL)

Information

Genome

Assembly Position
hg19 chr3:10,183,725-10,183,725
hg38 chr3:10,142,041-10,142,041 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.194C>G NP_000542.1:p.Ser65Trp
NM_198156.2:c.194C>G NP_937799.1:p.Ser65Trp
Ensemble ENST00000256474.3:c.194C>G ENST00000256474.3:p.Ser65Trp
Summary

MGeND

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

Frequency

[No Data.]

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 COSM34005 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 2024-02-22 criteria provided, single submitter Von Hippel-Lindau syndrome germline unknown Detail
Pathogenic 2023-08-15 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-12-17 criteria provided, single submitter Chuvash polycythemia,Von Hippel-Lindau syndrome germline Detail
Pathogenic 2023-12-17 criteria provided, single submitter Chuvash polycythemia,Von Hippel-Lindau syndrome germline Detail
Pathogenic 2021-10-07 criteria provided, single submitter Hereditary cancer-predisposing 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 7728151 Detail
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 3 8730290 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 3 17661816 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 3 9829911 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 3 17024664 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 3 20518900 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 2 22156657 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 3 23384228 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 3 22357542 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 3 28650583 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 3 26622630 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 3 25834951 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 3 28388566 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
Annotation

Annotations

DescrptionSourceLinks
In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detec... CIViC Evidence Detail
An investigation of 94 VHL patients without large deletions for intragenic mutations revealed 40 dif... CIViC Evidence Detail
In a study of 138 unrelated VHL families, 109 germline mutations were found. Missense mutations were... CIViC Evidence Detail
Molecular analysis of VHL gene in 146 probands, 103 with and 43 without a positive family history, r... CIViC Evidence Detail
Germline mutations were found in all 93 families that fulfilled clinical criteria of VHL disease. Mu... CIViC Evidence Detail
Genotype-phenotype correlations of 573 VHL patients from 200 kindreds were analyzed. Higher risk of ... 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
14 Chinese patients from 10 families were diagnosed with Von Hippel-Lindau disease based on clinical... CIViC Evidence Detail
The study looked to evaluate growth kinetic in VHL-associated renal cell carcinoma. Of the 64 VHL p... CIViC Evidence Detail
A case report of a Chinese family with mosaic VHL is described. The proband first came to medical at... CIViC Evidence Detail
Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline muta... CIViC Evidence Detail
37 Danish patients diagnosed with VHL before 18 years from a prospective cohort study from Denmark's... CIViC Evidence Detail
A 33 year old Asian male patient presented with advanced bilateral multicentric renal carcinoma. Gen... CIViC Evidence Detail
The national cohort study describes how the rate of new tumor development varies through the lifetim... CIViC Evidence Detail
A retrospective cohort study included all the VHL patients diagnosed at Peking University First Hosp... CIViC Evidence Detail
NM_000551.4(VHL):c.194C>G (p.Ser65Trp) AND Von Hippel-Lindau syndrome ClinVar Detail
NM_000551.4(VHL):c.194C>G (p.Ser65Trp) AND not provided ClinVar Detail
NM_000551.4(VHL):c.194C>G (p.Ser65Trp) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.194C>G (p.Ser65Trp) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.194C>G (p.Ser65Trp) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NA DisGeNET 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
rs5030826 dbSNP
Genome
hg19
Position
chr3:10,183,725-10,183,725
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Variant (CIViC) (CIViC Variant)
S65W (c.194C>G)
Transcript 1 (CIViC Variant)
ENST00000
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1787
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