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NM_148919.4(PSMB8):c.544G>A (p.Gly182Arg) AND Proteasome-associated autoinflammatory syndrome 1

Germline classification:
no classifications from unflagged records (1 submission)
Review status:
no classifications from unflagged records
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:
RCV001225483.13

Allele description [Variation Report for NM_148919.4(PSMB8):c.544G>A (p.Gly182Arg)]

NM_148919.4(PSMB8):c.544G>A (p.Gly182Arg)

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.544G>A (p.Gly182Arg)
HGVS:
  • NC_000006.12:g.32841729C>T
  • NG_009793.3:g.2042G>A
  • NG_028165.1:g.8207G>A
  • NM_004159.5:c.532G>A
  • NM_148919.4:c.544G>AMANE SELECT
  • NP_004150.1:p.Gly178Arg
  • NP_683720.2:p.Gly182Arg
  • LRG_1328t1:c.544G>A
  • LRG_1328t2:c.532G>A
  • LRG_1328:g.8207G>A
  • LRG_1328p1:p.Gly182Arg
  • LRG_1328p2:p.Gly178Arg
  • NC_000006.11:g.32809506C>T
  • NM_148919.3:c.544G>A
Protein change:
G178R
Links:
dbSNP: rs1769920763
NCBI 1000 Genomes Browser:
rs1769920763
Molecular consequence:
  • NM_004159.5:c.532G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_148919.4:c.544G>A - missense variant - [Sequence Ontology: SO:0001583]

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
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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 Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital, SCV001984652.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001984652Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
flagged submission
Reason: This record appears to be redundant with a more recent record from the same submitter.
Notes: SCV001984652 appears to be redundant with SCV002774964.

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 13, 2020) 		germlineclinical testing

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

Last Updated: Sep 29, 2024