chr3:10142089:C>T Detail (hg38) (VHL)

Information

Genome

Assembly Position
hg19 chr3:10,183,773-10,183,773 View the variant detail on this assembly version.
hg38 chr3:10,142,089-10,142,089

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.242C>T NP_000542.1:p.Pro81Leu
NM_198156.2:c.242C>T NP_937799.1:p.Pro81Leu
Ensemble ENST00000256474.3:c.242C>T ENST00000256474.3:p.Pro81Leu
Summary

MGeND

Clinical significance
Variant entry
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 COSM1757300 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2023-04-27 criteria provided, multiple submitters, no conflicts Von Hippel-Lindau syndrome germline Detail
Likely pathogenic 2024-01-09 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-12-27 criteria provided, single submitter Von Hippel-Lindau syndrome,Chuvash polycythemia germline Detail
Pathogenic 2023-12-27 criteria provided, single submitter Von Hippel-Lindau syndrome,Chuvash polycythemia germline Detail
Likely pathogenic 2022-04-13 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2023-04-04 criteria provided, single submitter Chuvash polycythemia unknown Detail
CIViC
[No Data.]
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
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) AND Von Hippel-Lindau syndrome ClinVar Detail
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) AND not provided ClinVar Detail
NM_000551.4(VHL):c.242C>T (p.Pro81Leu) AND Chuvash polycythemia 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
rs193922608 dbSNP
Genome
hg38
Position
chr3:10,142,089-10,142,089
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
7406
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)
97246
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.0283199308969007E-5
Variant (CIViC) (CIViC Variant)
P81L (c.242C>T)
Transcript 1 (CIViC Variant)
ENST00000256474.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/2084
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