chr3:10142086:G>A Detail (hg38) (VHL)

Information

Genome

Assembly Position
hg19 chr3:10,183,770-10,183,770 View the variant detail on this assembly version.
hg38 chr3:10,142,086-10,142,086

HGVS

Type Transcript Protein
RefSeq NM_000551.3:c.239G>A NP_000542.1:p.Ser80Asn
NM_198156.2:c.239G>A NP_937799.1:p.Ser80Asn
Ensemble ENST00000256474.3:c.239G>A ENST00000256474.3:p.Ser80Asn
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 1
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 COSM30216 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
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-05-19 criteria provided, single submitter Von Hippel-Lindau syndrome,Chuvash polycythemia germline Detail
Pathogenic 2023-05-19 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 3 9829912 Detail
renal cell carcinoma C Predisposing Supports Uncertain Significance Rare Germline 2 8707293 Detail
adrenal gland pheochromocytoma C Predisposing Supports Uncertain Significance Rare Germline 3 12000816 Detail
von Hippel-Lindau disease C Predisposing Supports Uncertain Significance Rare Germline 2 11409863 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
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
Screening of 92 unrelated patients with VHL disease revealed 61 DNA variants. No variants were found... CIViC Evidence Detail
Of 65 VHL families from central Europe, 53 were identified with germline mutations. This missense mu... CIViC Evidence Detail
Peripheral blood from unrelated patients with pheochromocytoma was tested for mutations of proto-onc... CIViC Evidence Detail
43 unrelated VHL patients with previously sequenced VHL germline mutations and 36 suspected VHL muta... CIViC Evidence Detail
NM_000551.4(VHL):c.239G>A (p.Ser80Asn) AND multiple conditions ClinVar Detail
NM_000551.4(VHL):c.239G>A (p.Ser80Asn) AND multiple conditions ClinVar 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
rs5030805 dbSNP
Genome
hg38
Position
chr3:10,142,086-10,142,086
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
S80N (c.239G>A)
Transcript 1 (CIViC Variant)
ENST00000256474.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1874
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