chr3:10142041:C>T Detail (hg38) (VHL)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.194C>T NP_000542.1:p.Ser65Leu
NM_198156.2:c.194C>T NP_937799.1:p.Ser65Leu
Ensemble ENST00000256474.3:c.194C>T ENST00000256474.3:p.Ser65Leu
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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 COSM14400 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
Pathogenic other phakomatoses, not elsewhere classified germline MGS000077
(TMGS000152) 		Kenji Tamura Kochi University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2017-01-01 criteria provided, single submitter Cerebellar hemangioblastoma unknown Detail
Pathogenic 2022-11-14 criteria provided, single submitter Von Hippel-Lindau syndrome,Chuvash polycythemia germline unknown Detail
Pathogenic 2022-11-14 criteria provided, single submitter Von Hippel-Lindau syndrome,Chuvash polycythemia germline unknown 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 3 17661816 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 2 17024664 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 2 9829912 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 2 12114495 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 3 14722919 Detail
clear cell renal cell carcinoma E Predisposing Supports Uncertain Significance Somatic 2 11505222 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Unknown 2 28379443 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 2 25834951 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 3 26308528 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 2 23797736 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 3 28388566 Detail
renal carcinoma C Predisposing Supports Uncertain Significance Somatic 3 7915601 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
An investigation of 94 VHL patients without large deletions for intragenic mutations revealed 40 dif... CIViC Evidence Detail
Molecular analysis of VHL gene in 146 probands, 103 with and 43 without a positive family history, r... CIViC Evidence Detail
Genotype-phenotype correlations of 573 VHL patients from 200 kindreds were analyzed. This missense m... CIViC Evidence Detail
Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found... CIViC Evidence Detail
A study of 34 Polish families revealed germline mutations in 30 families. Mutations were not detecte... CIViC Evidence Detail
Thirty-five unrelated spanish patients suspected of having von Hippel-Lindau disease were analyzed a... CIViC Evidence Detail
This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clea... CIViC Evidence Detail
Thirty-two surgically resected HB specimens from 28 patients treated at the University of Tokyo Hosp... CIViC Evidence Detail
This retrospective study of 52 Danish patients with genetically confirmed VHL mutations analyzed the... CIViC Evidence Detail
A retrospective study reviewed cases of 23 patients with advanced and complicated VHL eye disease wh... CIViC Evidence Detail
240 ccRCC specimens were genetically analyzed. 3 specimens (ccRCC-58, ccRCC-154, ccRCC-238) from 3 d... CIViC Evidence Detail
A retrospective cohort study included all the VHL patients diagnosed at Peking University First Hosp... CIViC Evidence Detail
Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of h... CIViC Evidence Detail
NM_000551.4(VHL):c.194C>T (p.Ser65Leu) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.194C>T (p.Ser65Leu) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.194C>T (p.Ser65Leu) AND multiple conditions 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
hg38
Position
chr3:10,142,041-10,142,041
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
S65L (c.194C>T)
Transcript 1 (CIViC Variant)
ENST00000256474.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1788
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