chr3:10146526:T>C Detail (hg38) (VHL, LOC107303340)

Information

Genome

Assembly Position
hg19 chr3:10,188,210-10,188,210 View the variant detail on this assembly version.
hg38 chr3:10,146,526-10,146,526

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.353T>C NP_000542.1:p.Leu118Pro
NM_198156.2:c.341-3261T>C
Ensemble ENST00000256474.3:c.353T>C ENST00000256474.3:p.Leu118Pro
Summary

MGeND

Clinical significance Likely 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 COSM14312 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic other germline MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2018-10-02 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2022-01-18 criteria provided, single submitter Chuvash polycythemia,Von Hippel-Lindau syndrome germline Detail
Pathogenic 2022-01-18 criteria provided, single submitter Chuvash polycythemia,Von Hippel-Lindau syndrome germline Detail
Pathogenic no assertion criteria provided not provided 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 7987306 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 4 17024664 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 3 9829912 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 2 11409863 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 2 20846682 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.658 Von Hippel-Lindau syndrome Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from ... UNIPROT 8956040 Detail
Annotation

Annotations

DescrptionSourceLinks
An investigation of 94 VHL patients without large deletions for intragenic mutations revealed 40 dif... CIViC Evidence Detail
Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of ... CIViC Evidence Detail
Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found... CIViC Evidence Detail
43 unrelated VHL patients with previously sequenced VHL germline mutations and 36 suspected VHL muta... CIViC Evidence Detail
26 VHL patients from 18 families, who had undergone a partial adrenalectomy for pheochromocytoma wer... CIViC Evidence Detail
NM_000551.4(VHL):c.353T>C (p.Leu118Pro) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000551.4(VHL):c.353T>C (p.Leu118Pro) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.353T>C (p.Leu118Pro) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.353T>C (p.Leu118Pro) AND not provided ClinVar Detail
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europ... 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
rs5030830 dbSNP
Genome
hg38
Position
chr3:10,146,526-10,146,526
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
L118P (c.353T>C)
Transcript 1 (CIViC Variant)
ENST00
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1798
Genome browser