chr3:10183787:C>T Detail (hg19) (VHL)

Information

Genome

Assembly Position
hg19 chr3:10,183,787-10,183,787
hg38 chr3:10,142,103-10,142,103 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_198156.2:c.256C>T NP_937799.1:p.Pro86Ser
NM_000551.3:c.256C>T NP_000542.1:p.Pro86Ser
Ensemble ENST00000345392.3:c.256C>T ENST00000345392.3:p.Pro86Ser
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 COSM18350 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 Von Hippel-Lindau Type 1 (pheochromocytoma) germline MGS000001
(TMGS000162) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2016-01-29 criteria provided, multiple submitters, no conflicts Von Hippel-Lindau syndrome germline Detail
Pathogenic 2022-11-03 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-04-06 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2022-06-22 criteria provided, single submitter Von Hippel-Lindau syndrome,Chuvash polycythemia germline Detail
Pathogenic 2022-06-22 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 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 22357542 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 2 25867206 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.658 Von Hippel-Lindau syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
Mutational analysis for 16 patients with clinically diagnosed VHL disease, revealed 12 germline muta... CIViC Evidence Detail
Patients with ELSTs in the VHL registries of the participating centers in Europe were identified and... CIViC Evidence Detail
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) AND Von Hippel-Lindau syndrome ClinVar Detail
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) AND not provided ClinVar Detail
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) AND multiple conditions ClinVar 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
rs398123481 dbSNP
Genome
hg19
Position
chr3:10,183,787-10,183,787
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
P86S (c.256C>T)
Transcript 1 (CIViC Variant)
ENST
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1902
Genome browser