chr6:32841587:C>T Detail (hg38) (PSMB8)

Information

Genome

Assembly Position
hg19 chr6:32,809,364-32,809,364 View the variant detail on this assembly version.
hg38 chr6:32,841,587-32,841,587

HGVS

Type Transcript Protein
RefSeq NM_004159.4:c.674G>A NP_004150.1:p.Arg225His
NM_148919.3:c.686G>A NP_683720.2:p.Arg229His
Ensemble ENST00000374881.3:c.674G>A ENST00000374881.3:p.Arg225His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 177046 OMIM
HGNC 9545 HGNC
Ensembl ENSG00000204264 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24861984 TogoVar
COSMIC COSM3348960 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-01-11 criteria provided, conflicting interpretations proteasome-associated autoinflammatory syndrome 1 germline Detail
Uncertain significance 2021-06-01 criteria provided, single submitter Autoinflammatory syndrome germline Detail
Likely benign 2023-11-10 criteria provided, single submitter proteosome-associated autoinflammatory syndrome germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_148919.4(PSMB8):c.686G>A (p.Arg229His) AND Proteasome-associated autoinflammatory syndrome 1 ClinVar Detail
NM_148919.4(PSMB8):c.686G>A (p.Arg229His) AND Autoinflammatory syndrome ClinVar Detail
NM_148919.4(PSMB8):c.686G>A (p.Arg229His) AND Proteosome-associated autoinflammatory syndrome ClinVar 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
rs547653681 dbSNP
Genome
hg38
Position
chr6:32,841,587-32,841,587
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs547653681
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8508
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)
115918
Allele Counts in All Race (ExAC)
42
Heterozygous Counts in All Race (ExAC)
42
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.6232509187529116E-4
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