chr3:10142124:G>C Detail (hg38) (VHL)

Information

Genome

Assembly Position
hg19 chr3:10,183,808-10,183,808 View the variant detail on this assembly version.
hg38 chr3:10,142,124-10,142,124

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.277G>C NP_000542.1:p.Gly93Arg
NM_198156.2:c.277G>C NP_937799.1:p.Gly93Arg
Ensemble ENST00000256474.3:c.277G>C ENST00000256474.3:p.Gly93Arg
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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 COSM18080 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other phakomatoses, not elsewhere classified germline MGS000077
(TMGS000152) 		Kenji Tamura Kochi University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2016-02-26 no assertion criteria provided Von Hippel-Lindau syndrome germline Detail
Likely pathogenic 2022-03-11 criteria provided, single submitter Von Hippel-Lindau syndrome,Chuvash polycythemia germline Detail
Likely pathogenic 2022-03-11 criteria provided, single submitter Von Hippel-Lindau syndrome,Chuvash polycythemia germline Detail
Likely pathogenic 2018-02-19 criteria provided, single submitter Hereditary cancer-predisposing syndrome 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 11409863 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 2 20660572 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.416 pheochromocytoma NA CLINVAR Detail
0.416 pheochromocytoma Almost one fourth of patients with apparently sporadic pheochromocytoma may be c... UNIPROT 12000816 Detail
0.658 Von Hippel-Lindau syndrome The group of susceptibility genes for pheochromocytoma that included the proto-o... UNIPROT 12000816 Detail
Annotation

Annotations

DescrptionSourceLinks
43 unrelated VHL patients with previously sequenced VHL germline mutations and 36 suspected VHL muta... CIViC Evidence Detail
53 patients with a molecularly confirmed VHL mutation and a pancreatic neuroendocrine tumor were col... CIViC Evidence Detail
NM_000551.4(VHL):c.277G>C (p.Gly93Arg) AND Von Hippel-Lindau syndrome ClinVar Detail
NM_000551.4(VHL):c.277G>C (p.Gly93Arg) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.277G>C (p.Gly93Arg) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.277G>C (p.Gly93Arg) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NA DisGeNET Detail
Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations... DisGeNET Detail
The group of susceptibility genes for pheochromocytoma that included the proto-oncogene RET (associa... 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
rs5030808 dbSNP
Genome
hg38
Position
chr3:10,142,124-10,142,124
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Variant (CIViC) (CIViC Variant)
G93R (c.277G>C)
Transcript 1 (CIViC Variant)
ENST00000256474.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1920
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