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NM_148919.4(PSMB8):c.367G>A (p.Asp123Asn) AND Proteasome-associated autoinflammatory syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 15, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001093597.2

Allele description [Variation Report for NM_148919.4(PSMB8):c.367G>A (p.Asp123Asn)]

NM_148919.4(PSMB8):c.367G>A (p.Asp123Asn)

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.367G>A (p.Asp123Asn)
HGVS:
  • NC_000006.12:g.32842712C>T
  • NG_009793.3:g.1059G>A
  • NG_028165.1:g.7224G>A
  • NM_004159.5:c.355G>A
  • NM_148919.4:c.367G>AMANE SELECT
  • NP_004150.1:p.Asp119Asn
  • NP_683720.2:p.Asp123Asn
  • LRG_1328t1:c.367G>A
  • LRG_1328t2:c.355G>A
  • LRG_1328:g.7224G>A
  • LRG_1328p1:p.Asp123Asn
  • LRG_1328p2:p.Asp119Asn
  • NC_000006.11:g.32810489C>T
Protein change:
D119N
Links:
dbSNP: rs1769994178
NCBI 1000 Genomes Browser:
rs1769994178
Molecular consequence:
  • NM_004159.5:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_148919.4:c.367G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV001197264Geng Laboratory, The Second Hospital Affiliated to Xi’an Jiaotong University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 15, 2020) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Geng Laboratory, The Second Hospital Affiliated to Xi’an Jiaotong University, SCV001197264.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

In-silico analysis by Mutation Taster, Polyphen-2, REVEL, SIFT and Provean, both mutations were predicted as damaging.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024