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NM_148919.4(PSMB8):c.163C>T (p.Gln55Ter) AND Proteasome-associated autoinflammatory syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 24, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004515817.1

Allele description [Variation Report for NM_148919.4(PSMB8):c.163C>T (p.Gln55Ter)]

NM_148919.4(PSMB8):c.163C>T (p.Gln55Ter)

Gene:
PSMB8:proteasome 20S subunit beta 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.32
Genomic location:
Preferred name:
NM_148919.4(PSMB8):c.163C>T (p.Gln55Ter)
Other names:
Q55*
HGVS:
  • NC_000006.12:g.32843074G>A
  • NG_009793.4:g.697C>T
  • NG_028165.1:g.6862C>T
  • NM_004159.5:c.151C>T
  • NM_148919.4:c.163C>TMANE SELECT
  • NP_004150.1:p.Gln51Ter
  • NP_683720.2:p.Gln55Ter
  • LRG_1328t1:c.163C>T
  • LRG_1328t2:c.151C>T
  • LRG_1328:g.6862C>T
  • LRG_1328p1:p.Gln55Ter
  • LRG_1328p2:p.Gln51Ter
  • LRG_167:g.697C>T
  • NC_000006.11:g.32810851G>A
Protein change:
Q51*; GLN55TER
Links:
OMIM: 177046.0006
Molecular consequence:
  • NM_004159.5:c.151C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_148919.4:c.163C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Proteasome-associated autoinflammatory syndrome 1 (PRAAS1)
Synonyms:
Nakajo syndrome; Nodular erythema digital changes; JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0054698; MedGen: C4746851; Orphanet: 2615; Orphanet: 324977; Orphanet: 324999; Orphanet: 325004; OMIM: 256040

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005016633OMIM
no assertion criteria provided
Pathogenic
(Apr 24, 2024) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS).

Papendorf JJ, Ebstein F, Alehashemi S, Piotto DGP, Kozlova A, Terreri MT, Shcherbina A, Rastegar A, Rodrigues M, Pereira R, Park S, Lin B, Uss K, Möller S, da Silva Pina AF, Sztajnbok F, Torreggiani S, Niemela J, Stoddard J, Rosenzweig SD, Oler AJ, McNinch C, et al.

Front Immunol. 2023;14:1190104. doi: 10.3389/fimmu.2023.1190104.

PubMed [citation]
PMID:
37600812
PMCID:
PMC10436547

Details of each submission

From OMIM, SCV005016633.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient (patient 5) with atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (PRAAS1; 256040), Papendorf et al. (2023) identified compound heterozygous mutations in the PSMB8 gene: a c.163C-T transition, resulting in a gln55-to-ter (Q55X) substitution, and a c.352T-C transition, resulting in a ser118-to-pro (S118P; 177046.0007) substitution. The parents were shown to be mutation carriers. The Q55X mutation was not present in the gnomAD database and the S118P mutation was present at an allele frequency of 0.000032. PSMB8 with the Q55X mutation was expressed in HeLa cells and resulted in no protein expression. PSMB8 with the S118P mutation was expressed in HeLa cells and the resulting protein was inefficiently incorporated into mature proteasomes.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024