chr3:10142139:T>C Detail (hg38) (VHL)

Information

Genome

Assembly Position
hg19 chr3:10,183,823-10,183,823 View the variant detail on this assembly version.
hg38 chr3:10,142,139-10,142,139

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.292T>C NP_000542.1:p.Tyr98His
NM_198156.2:c.292T>C NP_937799.1:p.Tyr98His
Ensemble ENST00000256474.3:c.292T>C ENST00000256474.3:p.Tyr98His
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
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 2023-06-21 criteria provided, multiple submitters, no conflicts Von Hippel-Lindau syndrome germline unknown Detail
Pathogenic 2021-02-12 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2022-02-01 criteria provided, multiple submitters, no conflicts not provided unknown germline Detail
Pathogenic 2024-01-08 criteria provided, single submitter Von Hippel-Lindau syndrome,Chuvash polycythemia germline Detail
Pathogenic 2024-01-08 criteria provided, single submitter Von Hippel-Lindau syndrome,Chuvash polycythemia germline Detail
Pathogenic 2023-11-22 criteria provided, single submitter VHL-related disorder germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 3 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 2 8707293 Detail
adrenal gland pheochromocytoma C Predisposing Supports Uncertain Significance Rare Germline 3 12000816 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 2 20660572 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 2 20846682 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 2 25883647 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 2 25867206 Detail
von Hippel-Lindau disease C Predisposing N/A N/A Rare Germline 3 7759077 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
0.416 pheochromocytoma Almost one fourth of patients with apparently sporadic pheochromocytoma may be c... UNIPROT 12000816 Detail
0.658 Von Hippel-Lindau syndrome The group of susceptibility genes for pheochromocytoma that included the proto-o... UNIPROT 12000816 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
Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mu... CIViC Evidence Detail
Peripheral blood from unrelated patients with pheochromocytoma was tested for mutations of proto-onc... CIViC Evidence Detail
53 patients with a molecularly confirmed VHL mutation and a pancreatic neuroendocrine tumor were col... CIViC Evidence Detail
26 VHL patients from 18 families, who had undergone a partial adrenalectomy for pheochromocytoma wer... CIViC Evidence Detail
Genetic analysis of 21 patients with known germline mutations in an inherited pheochromocytoma/parag... CIViC Evidence Detail
Patients with ELSTs in the VHL registries of the participating centers in Europe were identified and... CIViC Evidence Detail
Peripheral blood from 116 VHL-affected patients in an interrelated group of 14 German and 2 American... CIViC Evidence Detail
NM_000551.4(VHL):c.292T>C (p.Tyr98His) AND Von Hippel-Lindau syndrome ClinVar Detail
NM_000551.4(VHL):c.292T>C (p.Tyr98His) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000551.4(VHL):c.292T>C (p.Tyr98His) AND not provided ClinVar Detail
NM_000551.4(VHL):c.292T>C (p.Tyr98His) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.292T>C (p.Tyr98His) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.292T>C (p.Tyr98His) AND VHL-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations... DisGeNET Detail
The group of susceptibility genes for pheochromocytoma that included the proto-oncogene RET (associa... 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
rs5030809 dbSNP
Genome
hg38
Position
chr3:10,142,139-10,142,139
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
Y98H (c.292T>C)
Transcript 1 (CIViC Variant)
ENST00000256474.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1741
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