chr3:10149885:C>G Detail (hg38) (VHL, LOC107303340)

Information

Genome

Assembly Position
hg19 chr3:10,191,569-10,191,569 View the variant detail on this assembly version.
hg38 chr3:10,149,885-10,149,885

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.562C>G NP_000542.1:p.Leu188Val
NM_198156.2:c.439C>G NP_937799.1:p.Leu147Val
Ensemble ENST00000256474.3:c.562C>G ENST00000256474.3:p.Leu188Val
Summary

MGeND

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

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 COSM18026 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 Likely pathogenic 2024-02-22 criteria provided, multiple submitters, no conflicts Von Hippel-Lindau syndrome germline unknown Detail
Pathogenic 2023-04-23 criteria provided, single submitter Chuvash polycythemia germline unknown Detail
Pathogenic 2003-02-15 no assertion criteria provided pheochromocytoma germline Detail
Pathogenic Likely pathogenic 2023-12-26 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic Likely pathogenic 2023-08-16 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2024-01-31 criteria provided, single submitter Chuvash polycythemia,Von Hippel-Lindau syndrome germline Detail
Pathogenic 2024-01-31 criteria provided, single submitter Chuvash polycythemia,Von Hippel-Lindau syndrome germline Detail
Likely pathogenic criteria provided, single submitter Au-Kline syndrome germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
adrenal gland pheochromocytoma C Predisposing Supports Uncertain Significance Rare Germline 3 12000816 Detail
von Hippel-Lindau disease B Predisposing N/A N/A Rare Germline 3 11850829 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.658 Von Hippel-Lindau syndrome NA CLINVAR Detail
0.416 pheochromocytoma NA CLINVAR Detail
0.560 ERYTHROCYTOSIS, FAMILIAL, 2 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
0.560 ERYTHROCYTOSIS, FAMILIAL, 2 Germ-line mutations in nonsyndromic pheochromocytoma. UNIPROT 12000816 Detail
Annotation

Annotations

DescrptionSourceLinks
Peripheral blood from unrelated patients with pheochromocytoma was tested for mutations of proto-onc... CIViC Evidence Detail
36 VHL-related pheochromocytomas (from 21 patients) and 10 VHL-related CNS hemangioblastomas (from 6... CIViC Evidence Detail
NM_000551.4(VHL):c.562C>G (p.Leu188Val) AND Von Hippel-Lindau syndrome ClinVar Detail
NM_000551.4(VHL):c.562C>G (p.Leu188Val) AND Chuvash polycythemia ClinVar Detail
NM_000551.4(VHL):c.562C>G (p.Leu188Val) AND Pheochromocytoma ClinVar Detail
NM_000551.4(VHL):c.562C>G (p.Leu188Val) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000551.4(VHL):c.562C>G (p.Leu188Val) AND not provided ClinVar Detail
NM_000551.4(VHL):c.562C>G (p.Leu188Val) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.562C>G (p.Leu188Val) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.562C>G (p.Leu188Val) AND Au-Kline syndrome ClinVar Detail
NA DisGeNET 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
Germ-line mutations in nonsyndromic pheochromocytoma. 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
rs5030824 dbSNP
Genome
hg38
Position
chr3:10,149,885-10,149,885
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120982
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.653138483410755E-5
Variant (CIViC) (CIViC Variant)
L188V (c.562C>G)
Transcript 1 (CIViC Variant)
ENST00000256474.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1836
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