chr12:6333477:C>T Detail (hg38) (TNFRSF1A)

Information

Genome

Assembly Position
hg19 chr12:6,442,643-6,442,643 View the variant detail on this assembly version.
hg38 chr12:6,333,477-6,333,477

HGVS

Type Transcript Protein
RefSeq NM_001065.3:c.362G>A NP_001056.1:p.Arg121Gln
Ensemble ENST00000162749.7:c.362G>A ENST00000162749.7:p.Arg121Gln
ENST00000440083.7:c.362G>A ENST00000440083.7:p.Arg121Gln
Summary

MGeND

Clinical significance
Variant entry
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 191190 OMIM
HGNC 11916 HGNC
Ensembl ENSG00000067182 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv376892745 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-01-31 criteria provided, conflicting interpretations TNF receptor-associated periodic fever syndrome (TRAPS) unknown germline Detail
Benign Likely benign 2024-02-05 criteria provided, multiple submitters, no conflicts not specified germline Detail
Conflicting interpretations of pathogenicity 2024-03-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2022-06-27 criteria provided, single submitter TNF receptor-associated periodic fever syndrome (TRAPS),Multiple sclerosis, susceptibility to, 5 germline Detail
Uncertain significance 2022-06-27 criteria provided, single submitter TNF receptor-associated periodic fever syndrome (TRAPS),Multiple sclerosis, susceptibility to, 5 germline Detail
Uncertain significance 2020-04-05 criteria provided, single submitter Autoinflammatory syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.085 multiple sclerosis To investigate the roles of 2 polymorphisms of the tumor necrosis factor (TNF) r... BeFree 23624563 Detail
0.259 multiple sclerosis TNFRSF1A polymorphisms rs1800693 and rs4149584 in patients with multiple scleros... BeFree 23624563 Detail
0.259 multiple sclerosis [Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A a... GAD 19525953 Detail
0.582 TNF receptor-associated periodic fever syndrome (TRAPS) NA CLINVAR Detail
0.582 TNF receptor-associated periodic fever syndrome (TRAPS) The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations i... UNIPROT 11443543 Detail
0.582 TNF receptor-associated periodic fever syndrome (TRAPS) The presence of TNFRSF1A shedding defects and low sTNFRSF1A levels in 3 families... UNIPROT 13130484 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) AND TNF receptor-associated periodic fever syndrome (TR... ClinVar Detail
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) AND not specified ClinVar Detail
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) AND not provided ClinVar Detail
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) AND multiple conditions ClinVar Detail
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) AND multiple conditions ClinVar Detail
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) AND Autoinflammatory syndrome ClinVar Detail
To investigate the roles of 2 polymorphisms of the tumor necrosis factor (TNF) receptor superfamily ... DisGeNET Detail
TNFRSF1A polymorphisms rs1800693 and rs4149584 in patients with multiple sclerosis. DisGeNET Detail
[Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple scler... DisGeNET Detail
NA DisGeNET Detail
The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestra... DisGeNET Detail
The presence of TNFRSF1A shedding defects and low sTNFRSF1A levels in 3 families without a TNFRSF1A ... 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
rs4149584 dbSNP
Genome
hg38
Position
chr12:6,333,477-6,333,477
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8644
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)
120556
Allele Counts in All Race (ExAC)
1701
Heterozygous Counts in All Race (ExAC)
1673
Homozygous Counts in All Race (ExAC)
14
Allele Frequency in All Race (ExAC)
0.014109625402302664
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