chr3:10142080:A>G Detail (hg38) (VHL)

Information

Genome

Assembly Position
hg19 chr3:10,183,764-10,183,764 View the variant detail on this assembly version.
hg38 chr3:10,142,080-10,142,080

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.233A>G NP_000542.1:p.Asn78Ser
NM_198156.2:c.233A>G NP_937799.1:p.Asn78Ser
Ensemble ENST00000256474.3:c.233A>G ENST00000256474.3:p.Asn78Ser
Summary

MGeND

Clinical significance Pathogenic
Variant entry 10
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 COSM17855 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 2020-10-28 criteria provided, multiple submitters, no conflicts Von Hippel-Lindau syndrome germline unknown Detail
Pathogenic 2022-09-13 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2021-09-02 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2022-11-03 criteria provided, single submitter Von Hippel-Lindau syndrome,Chuvash polycythemia germline Detail
Pathogenic 2022-11-03 criteria provided, single submitter Von Hippel-Lindau syndrome,Chuvash polycythemia germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 4 7728151 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 17661816 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 3 19464396 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 2 8707293 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 2 26984080 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 2 25867206 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
0.658 Von Hippel-Lindau syndrome Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from ... UNIPROT 8956040 Detail
0.658 Von Hippel-Lindau syndrome p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-... BeFree 23842656 Detail
Annotation

Annotations

DescrptionSourceLinks
In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detec... CIViC Evidence Detail
Genotype-phenotype correlations of 573 VHL patients were analyzed and confirmed that higher risk of ... CIViC Evidence Detail
Molecular analysis of VHL gene in 146 probands, 103 with and 43 without a positive family history, r... CIViC Evidence Detail
43 Italian patients were molecularly analyzed for Von Hippel-Lindau disease based on clinical suspic... CIViC Evidence Detail
Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mu... CIViC Evidence Detail
A study of 34 Polish families revealed germline mutations in 30 families. Mutations were not detecte... CIViC Evidence Detail
A male patient with Type 1 VHL disease presented with vision loss and retinal angiomatosis in the r... CIViC Evidence Detail
Patients with ELSTs in the VHL registries of the participating centers in Europe were identified and... 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.233A>G (p.Asn78Ser) AND Von Hippel-Lindau syndrome ClinVar Detail
NM_000551.4(VHL):c.233A>G (p.Asn78Ser) AND not provided ClinVar Detail
NM_000551.4(VHL):c.233A>G (p.Asn78Ser) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000551.4(VHL):c.233A>G (p.Asn78Ser) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.233A>G (p.Asn78Ser) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europ... DisGeNET Detail
p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in t... 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
rs5030804 dbSNP
Genome
hg38
Position
chr3:10,142,080-10,142,080
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Variant (CIViC) (CIViC Variant)
N78S (c.233A>G)
Transcript 1 (CIViC Variant)
ENST
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1755
Genome browser