chr3:10183788:C>T Detail (hg19) (VHL)

Information

Genome

Assembly Position
hg19 chr3:10,183,788-10,183,788
hg38 chr3:10,142,104-10,142,104 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_198156.2:c.257C>T NP_937799.1:p.Pro86Leu
NM_000551.3:c.257C>T NP_000542.1:p.Pro86Leu
Ensemble ENST00000345392.3:c.257C>T ENST00000345392.3:p.Pro86Leu
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic
Variant entry 3
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 COSM18028 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
Pathogenic acute occlusive hydrocephalus 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 2016-02-02 criteria provided, single submitter Von Hippel-Lindau syndrome germline Detail
Pathogenic 2021-10-07 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2024-01-18 criteria provided, single submitter Von Hippel-Lindau syndrome,Chuvash polycythemia germline Detail
Pathogenic 2024-01-18 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
DisGeNET
Score Disease name Description Source Pubmed Links
0.125 Neoplastic Syndromes, Hereditary NA CLINVAR 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
NM_000551.4(VHL):c.257C>T (p.Pro86Leu) AND Von Hippel-Lindau syndrome ClinVar Detail
NM_000551.4(VHL):c.257C>T (p.Pro86Leu) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000551.4(VHL):c.257C>T (p.Pro86Leu) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.257C>T (p.Pro86Leu) 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
rs730882034 dbSNP
Genome
hg19
Position
chr3:10,183,788-10,183,788
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
P86L (c.257C>T)
Transcript 1 (CIViC Variant)
ENST00000256474.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1760
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