chr3:10149804:C>T Detail (hg38) (VHL, LOC107303340)

Information

Genome

Assembly Position
hg19 chr3:10,191,488-10,191,488 View the variant detail on this assembly version.
hg38 chr3:10,149,804-10,149,804

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.481C>T NP_000542.1:p.Arg161Ter
NM_198156.2:c.358C>T NP_937799.1:p.Arg120Ter
Ensemble ENST00000696153.1:c.592C>T ENST00000696153.1:p.Arg198Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 9
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 COSM17612 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 2019-07-22 criteria provided, multiple submitters, no conflicts Von Hippel-Lindau syndrome unknown germline Detail
Pathogenic 2023-02-07 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Papillary renal cell carcinoma type 1 somatic Detail
Pathogenic 2023-04-17 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-12-29 criteria provided, single submitter Von Hippel-Lindau syndrome,Chuvash polycythemia germline Detail
Pathogenic 2023-12-29 criteria provided, single submitter Von Hippel-Lindau syndrome,Chuvash polycythemia germline Detail
Pathogenic 2017-12-27 no assertion criteria provided Familial infantile myasthenia tested-inconclusive Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 3 9829911 Detail
von Hippel-Lindau disease C Predisposing Supports Pathogenic Rare Germline 3 9829912 Detail
renal cell carcinoma C Predisposing Supports Uncertain Significance Rare Germline 3 8707293 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 3 12114495 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 1 26763786 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 3 25867206 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
Germline mutations were found in all 93 families that fulfilled clinical criteria of VHL disease. Mu... CIViC Evidence Detail
Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found... CIViC Evidence Detail
Of 65 VHL families from central Europe, 53 were identified with germline mutations. This nonsense mu... CIViC Evidence Detail
A study of 34 Polish families revealed germline mutations in 30 families. Mutations were not detecte... CIViC Evidence Detail
A prospective study followed 128 participants affected by VHL syndrome for 12 years in Padova, Italy... CIViC Evidence Detail
Patients with ELSTs in the VHL registries of the participating centers in Europe were identified and... CIViC Evidence Detail
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) AND Von Hippel-Lindau syndrome ClinVar Detail
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) AND not provided ClinVar Detail
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) AND Papillary renal cell carcinoma type 1 ClinVar Detail
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) AND Familial infantile myasthenia 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
rs5030818 dbSNP
Genome
hg38
Position
chr3:10,149,804-10,149,804
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
R161* (c.481C>T)
Transcript 1 (CIViC Variant)
ENST00000
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1804
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