chr3:10142088:C>T Detail (hg38) (VHL)

Information

Genome

Assembly Position
hg19 chr3:10,183,772-10,183,772 View the variant detail on this assembly version.
hg38 chr3:10,142,088-10,142,088

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.241C>T NP_000542.1:p.Pro81Ser
NM_198156.2:c.241C>T NP_937799.1:p.Pro81Ser
Ensemble ENST00000256474.3:c.241C>T ENST00000256474.3:p.Pro81Ser
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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 Conflicting classifications of pathogenicity
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 COSM17721 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
Conflicting interpretations of pathogenicity 2024-02-05 criteria provided, conflicting interpretations Von Hippel-Lindau syndrome germline unknown Detail
Conflicting interpretations of pathogenicity 2022-01-25 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2024-02-06 criteria provided, multiple submitters, no conflicts not specified germline Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Neoplasm somatic Detail
Conflicting interpretations of pathogenicity 2023-02-06 criteria provided, conflicting interpretations not provided germline Detail
Benign 2024-02-01 criteria provided, single submitter Chuvash polycythemia,Von Hippel-Lindau syndrome germline Detail
Benign 2024-02-01 criteria provided, single submitter Chuvash polycythemia,Von Hippel-Lindau syndrome germline Detail
Uncertain significance no assertion criteria provided hepatoblastoma germline Detail
no classifications from unflagged records 2023-10-12 no classifications from unflagged records Enchondromatosis paternal Detail
Uncertain significance 2022-07-06 criteria provided, single submitter 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 2 8707293 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 3 24132471 Detail
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
0.143 Conventional (Clear Cell) Renal Cell Carcinoma The risk relevance of the P81S von Hippel-Lindau (VHL) gene hotspot mutation ide... BeFree 23990666 Detail
Annotation

Annotations

DescrptionSourceLinks
Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mu... CIViC Evidence Detail
Data was collected from 82 VHL mutation carriers in the Dutch VHL surveillance program. Two patients... CIViC Evidence Detail
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) AND Von Hippel-Lindau syndrome ClinVar Detail
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) AND not specified ClinVar Detail
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) AND Neoplasm ClinVar Detail
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) AND not provided ClinVar Detail
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) AND Hepatoblastoma ClinVar Detail
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) AND Enchondromatosis ClinVar Detail
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) AND Chuvash polycythemia ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
The risk relevance of the P81S von Hippel-Lindau (VHL) gene hotspot mutation identified in clear cel... 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
rs104893829 dbSNP
Genome
hg38
Position
chr3:10,142,088-10,142,088
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
7402
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)
96856
Allele Counts in All Race (ExAC)
20
Heterozygous Counts in All Race (ExAC)
20
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.0649211200132156E-4
Variant (CIViC) (CIViC Variant)
P81S (c.241C>T)
Transcript 1 (CIViC Variant)
ENST00000256474.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1837
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