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NC_000006.11:g.(?_30695893)_(36953949_?)dup AND Proteasome-associated autoinflammatory syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 12, 2021
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:
RCV003113679.3

Allele description

NC_000006.11:g.(?_30695893)_(36953949_?)dup

Genes:
  • AGPAT1:1-acylglycerol-3-phosphate O-acyltransferase 1 [Gene - OMIM - HGNC]
  • ATP6V1G2:ATPase H+ transporting V1 subunit G2 [Gene - OMIM - HGNC]
  • BAG6:BAG cochaperone 6 [Gene - OMIM - HGNC]
  • BAK1:BCL2 antagonist/killer 1 [Gene - OMIM - HGNC]
  • BNIP5:BCL2 interacting protein 5 [Gene - HGNC]
  • DDAH2:DDAH family member 2, ADMA-independent [Gene - OMIM - HGNC]
  • DEF6:DEF6 guanine nucleotide exchange factor [Gene - OMIM - HGNC]
  • DDX39B:DExD-box helicase 39B [Gene - OMIM - HGNC]
  • EGFL8:EGF like domain multiple 8 [Gene - OMIM - HGNC]
  • ETV7:ETS variant transcription factor 7 [Gene - OMIM - HGNC]
  • FANCE:FA complementation group E [Gene - OMIM - HGNC]
  • FKBP5:FKBP prolyl isomerase 5 [Gene - OMIM - HGNC]
  • FKBPL:FKBP prolyl isomerase like [Gene - OMIM - HGNC]
  • GPSM3:G protein signaling modulator 3 [Gene - OMIM - HGNC]
  • GPANK1:G-patch domain and ankyrin repeats 1 [Gene - OMIM - HGNC]
  • HCP5:HLA complex P5 [Gene - OMIM - HGNC]
  • HCG22:HLA complex group 22 (non-protein coding) [Gene - OMIM - HGNC]
  • HCG26:HLA complex group 26 [Gene - HGNC]
  • LEMD2:LEM domain nuclear envelope protein 2 [Gene - OMIM - HGNC]
  • LHFPL5:LHFPL tetraspan subfamily member 5 [Gene - OMIM - HGNC]
  • LSM2:LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated [Gene - OMIM - HGNC]
  • MICA:MHC class I polypeptide-related sequence A [Gene - OMIM - HGNC]
  • MICB:MHC class I polypeptide-related sequence B [Gene - OMIM - HGNC]
  • NFKBIL1:NFKB inhibitor like 1 [Gene - OMIM - HGNC]
  • PBX2:PBX homeobox 2 [Gene - OMIM - HGNC]
  • PHF1:PHD finger protein 1 [Gene - OMIM - HGNC]
  • POU5F1:POU class 5 homeobox 1 [Gene - OMIM - HGNC]
  • RAB44:RAB44, member RAS oncogene family [Gene - HGNC]
  • SPDEF:SAM pointed domain containing ETS transcription factor [Gene - OMIM - HGNC]
  • SKIC2:SKI2 subunit of superkiller complex [Gene - OMIM - HGNC]
  • SRPK1:SRSF protein kinase 1 [Gene - OMIM - HGNC]
  • TAPBP:TAP binding protein [Gene - OMIM - HGNC]
  • TAF11:TATA-box binding protein associated factor 11 [Gene - OMIM - HGNC]
  • TEAD3:TEA domain transcription factor 3 [Gene - OMIM - HGNC]
  • TULP1:TUB like protein 1 [Gene - OMIM - HGNC]
  • VPS52:VPS52 subunit of GARP complex [Gene - OMIM - HGNC]
  • WDR46:WD repeat domain 46 [Gene - OMIM - HGNC]
  • ABHD16A:abhydrolase domain containing 16A, phospholipase [Gene - OMIM - HGNC]
  • ATF6B:activating transcription factor 6 beta [Gene - OMIM - HGNC]
  • AGER:advanced glycosylation end-product specific receptor [Gene - OMIM - HGNC]
  • AIF1:allograft inflammatory factor 1 [Gene - OMIM - HGNC]
  • ANKS1A:ankyrin repeat and sterile alpha motif domain containing 1A [Gene - OMIM - HGNC]
  • APOM:apolipoprotein M [Gene - OMIM - HGNC]
  • ARMC12:armadillo repeat containing 12 [Gene - OMIM - HGNC]
  • B3GALT4:beta-1,3-galactosyltransferase 4 [Gene - OMIM - HGNC]
  • BLTP3A:bridge-like lipid transfer protein family member 3A [Gene - OMIM - HGNC]
  • BRPF3:bromodomain and PHD finger containing 3 [Gene - OMIM - HGNC]
  • BRD2:bromodomain containing 2 [Gene - OMIM - HGNC]
  • BTNL2:butyrophilin like 2 [Gene - OMIM - HGNC]
  • CSNK2B:casein kinase 2 beta [Gene - OMIM - HGNC]
  • CLIC1:chloride intracellular channel 1 [Gene - OMIM - HGNC]
  • C6orf15:chromosome 6 open reading frame 15 [Gene - OMIM - HGNC]
  • C6orf47:chromosome 6 open reading frame 47 [Gene - HGNC]
  • C6orf89:chromosome 6 open reading frame 89 [Gene - OMIM - HGNC]
  • CCHCR1:coiled-coil alpha-helical rod protein 1 [Gene - OMIM - HGNC]
  • CLPSL1:colipase like 1 [Gene - HGNC]
  • CLPSL2:colipase like 2 [Gene - HGNC]
  • CLPS:colipase [Gene - OMIM - HGNC]
  • COL11A2:collagen type XI alpha 2 chain [Gene - OMIM - HGNC]
  • C2:complement C2 [Gene - OMIM - HGNC]
  • C4A:complement C4A (Chido/Rodgers blood group) [Gene - OMIM - HGNC]
  • C4B:complement C4B (Chido/Rodgers blood group) [Gene - OMIM - HGNC]
  • CFB:complement factor B [Gene - OMIM - HGNC]
  • CPNE5:copine 5 [Gene - OMIM - HGNC]
  • CDSN:corneodesmosin [Gene - OMIM - HGNC]
  • CUTA:cutA divalent cation tolerance homolog [Gene - OMIM - HGNC]
  • CDKN1A:cyclin dependent kinase inhibitor 1A [Gene - OMIM - HGNC]
  • CYP21A2:cytochrome P450 family 21 subfamily A member 2 [Gene - OMIM - HGNC]
  • DAXX:death domain associated protein [Gene - OMIM - HGNC]
  • DXO:decapping exoribonuclease [Gene - OMIM - HGNC]
  • DDR1:discoidin domain receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
  • EHMT2:euchromatic histone lysine methyltransferase 2 [Gene - OMIM - HGNC]
  • FLOT1:flotillin 1 [Gene - OMIM - HGNC]
  • GTF2H4:general transcription factor IIH subunit 4 [Gene - OMIM - HGNC]
  • GRM4:glutamate metabotropic receptor 4 [Gene - OMIM - HGNC]
  • HSPA1L:heat shock protein family A (Hsp70) member 1 like [Gene - OMIM - HGNC]
  • HSPA1A:heat shock protein family A (Hsp70) member 1A [Gene - OMIM - HGNC]
  • HSPA1B:heat shock protein family A (Hsp70) member 1B [Gene - OMIM - HGNC]
  • HMGA1:high mobility group AT-hook 1 [Gene - OMIM - HGNC]
  • HSD17B8:hydroxysteroid 17-beta dehydrogenase 8 [Gene - OMIM - HGNC]
  • IER3:immediate early response 3 [Gene - OMIM - HGNC]
  • ILRUN:inflammation and lipid regulator with UBA-like and NBR1-like domains [Gene - OMIM - HGNC]
  • ITPR3:inositol 1,4,5-trisphosphate receptor type 3 [Gene - OMIM - HGNC]
  • IP6K3:inositol hexakisphosphate kinase 3 [Gene - OMIM - HGNC]
  • KIFC1:kinesin family member C1 [Gene - OMIM - HGNC]
  • LST1:leukocyte specific transcript 1 [Gene - OMIM - HGNC]
  • LY6G5B:lymphocyte antigen 6 family member G5B [Gene - OMIM - HGNC]
  • LY6G5C:lymphocyte antigen 6 family member G5C [Gene - OMIM - HGNC]
  • LY6G6C:lymphocyte antigen 6 family member G6C [Gene - OMIM - HGNC]
  • LY6G6D:lymphocyte antigen 6 family member G6D [Gene - OMIM - HGNC]
  • LY6G6F:lymphocyte antigen 6 family member G6F [Gene - OMIM - HGNC]
  • LTA:lymphotoxin alpha [Gene - OMIM - HGNC]
  • LTB:lymphotoxin beta [Gene - OMIM - HGNC]
  • HLA-B:major histocompatibility complex, class I, B [Gene - OMIM - HGNC]
  • HLA-C:major histocompatibility complex, class I, C [Gene - OMIM - HGNC]
  • HLA-DMA:major histocompatibility complex, class II, DM alpha [Gene - OMIM - HGNC]
  • HLA-DMB:major histocompatibility complex, class II, DM beta [Gene - OMIM - HGNC]
  • HLA-DOA:major histocompatibility complex, class II, DO alpha [Gene - OMIM - HGNC]
  • HLA-DOB:major histocompatibility complex, class II, DO beta [Gene - OMIM - HGNC]
  • HLA-DPA1:major histocompatibility complex, class II, DP alpha 1 [Gene - OMIM - HGNC]
  • HLA-DPB1:major histocompatibility complex, class II, DP beta 1 [Gene - OMIM - HGNC]
  • HLA-DQA1:major histocompatibility complex, class II, DQ alpha 1 [Gene - OMIM - HGNC]
  • HLA-DQA2:major histocompatibility complex, class II, DQ alpha 2 [Gene - OMIM - HGNC]
  • HLA-DQB1:major histocompatibility complex, class II, DQ beta 1 [Gene - OMIM - HGNC]
  • HLA-DQB2:major histocompatibility complex, class II, DQ beta 2 [Gene - OMIM - HGNC]
  • HLA-DRA:major histocompatibility complex, class II, DR alpha [Gene - OMIM - HGNC]
  • HLA-DRB1:major histocompatibility complex, class II, DR beta 1 [Gene - OMIM - HGNC]
  • HLA-DRB5:major histocompatibility complex, class II, DR beta 5 [Gene - OMIM - HGNC]
  • MPIG6B:megakaryocyte and platelet inhibitory receptor G6b [Gene - OMIM - HGNC]
  • MIR219A1:microRNA 219a-1 [Gene - OMIM - HGNC]
  • MTCH1:mitochondrial carrier 1 [Gene - OMIM - HGNC]
  • MCCD1:mitochondrial coiled-coil domain 1 [Gene - OMIM - HGNC]
  • MAPK13:mitogen-activated protein kinase 13 [Gene - OMIM - HGNC]
  • MAPK14:mitogen-activated protein kinase 14 [Gene - OMIM - HGNC]
  • MLN:motilin [Gene - OMIM - HGNC]
  • MUC21:mucin 21, cell surface associated [Gene - OMIM - HGNC]
  • MUC22:mucin 22 [Gene - OMIM - HGNC]
  • MUCL3:mucin like 3 [Gene - OMIM - HGNC]
  • MSH5:mutS homolog 5 [Gene - OMIM - HGNC]
  • NCR3:natural cytotoxicity triggering receptor 3 [Gene - OMIM - HGNC]
  • NELFE:negative elongation factor complex member E [Gene - OMIM - HGNC]
  • NEU1:neuraminidase 1 [Gene - OMIM - HGNC]
  • NOTCH4:notch receptor 4 [Gene - OMIM - HGNC]
  • NUDT3:nudix hydrolase 3 [Gene - OMIM - HGNC]
  • PPT2:palmitoyl-protein thioesterase 2 [Gene - OMIM - HGNC]
  • PNPLA1:patatin like phospholipase domain containing 1 [Gene - OMIM - HGNC]
  • PI16:peptidase inhibitor 16 [Gene - HGNC]
  • PPIL1:peptidylprolyl isomerase like 1 [Gene - OMIM - HGNC]
  • PXT1:peroxisomal testis enriched protein 1 [Gene - HGNC]
  • PPARD:peroxisome proliferator activated receptor delta [Gene - OMIM - HGNC]
  • KCTD20:potassium channel tetramerization domain containing 20 [Gene - OMIM - HGNC]
  • PFDN6:prefoldin subunit 6 [Gene - OMIM - HGNC]
  • PRRC2A:proline rich coiled-coil 2A [Gene - OMIM - HGNC]
  • PRRT1:proline rich transmembrane protein 1 [Gene - OMIM - HGNC]
  • PSMB8:proteasome 20S subunit beta 8 [Gene - OMIM - HGNC]
  • PSMB9:proteasome 20S subunit beta 9 [Gene - OMIM - HGNC]
  • PACSIN1:protein kinase C and casein kinase substrate in neurons 1 [Gene - OMIM - HGNC]
  • PSORS1C1:psoriasis susceptibility 1 candidate 1 [Gene - OMIM - HGNC]
  • PSORS1C2:psoriasis susceptibility 1 candidate 2 [Gene - OMIM - HGNC]
  • RGL2:ral guanine nucleotide dissociation stimulator like 2 [Gene - OMIM - HGNC]
  • RXRB:retinoid X receptor beta [Gene - OMIM - HGNC]
  • RPL10A:ribosomal protein L10a [Gene - OMIM - HGNC]
  • RPS10:ribosomal protein S10 [Gene - OMIM - HGNC]
  • RPS18:ribosomal protein S18 [Gene - OMIM - HGNC]
  • RING1:ring finger protein 1 [Gene - OMIM - HGNC]
  • RNF5:ring finger protein 5 [Gene - OMIM - HGNC]
  • SRSF3:serine and arginine rich splicing factor 3 [Gene - OMIM - HGNC]
  • STK19:serine/threonine kinase 19 [Gene - OMIM - HGNC]
  • STK38:serine/threonine kinase 38 [Gene - OMIM - HGNC]
  • SCUBE3:signal peptide, CUB domain and EGF like domain containing 3 [Gene - OMIM - HGNC]
  • SMIM29:small integral membrane protein 29 [Gene - OMIM - HGNC]
  • SNRPC:small nuclear ribonucleoprotein polypeptide C [Gene - OMIM - HGNC]
  • SNHG32:small nucleolar RNA host gene 32 [Gene - OMIM - HGNC]
  • SLC26A8:solute carrier family 26 member 8 [Gene - OMIM - HGNC]
  • SLC39A7:solute carrier family 39 member 7 [Gene - OMIM - HGNC]
  • SLC44A4:solute carrier family 44 member 4 [Gene - OMIM - HGNC]
  • SAPCD1:suppressor APC domain containing 1 [Gene - HGNC]
  • SFTA2:surfactant associated 2 [Gene - HGNC]
  • SYNGAP1:synaptic Ras GTPase activating protein 1 [Gene - OMIM - HGNC]
  • TCP11:t-complex 11 [Gene - OMIM - HGNC]
  • TNXB:tenascin XB [Gene - OMIM - HGNC]
  • TSBP1:testis expressed basic protein 1 [Gene - OMIM - HGNC]
  • TCF19:transcription factor 19 [Gene - OMIM - HGNC]
  • TAP1:transporter 1, ATP binding cassette subfamily B member [Gene - OMIM - HGNC]
  • TAP2:transporter 2, ATP binding cassette subfamily B member [Gene - OMIM - HGNC]
  • TNF:tumor necrosis factor [Gene - OMIM - HGNC]
  • UQCC2:ubiquinol-cytochrome c reductase complex assembly factor 2 [Gene - OMIM - HGNC]
  • VARS1:valyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • VARS2:valyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • VWA7:von Willebrand factor A domain containing 7 [Gene - OMIM - HGNC]
  • ZBTB12:zinc finger and BTB domain containing 12 [Gene - HGNC]
  • ZBTB22:zinc finger and BTB domain containing 22 [Gene - OMIM - HGNC]
  • ZBTB9:zinc finger and BTB domain containing 9 [Gene - HGNC]
  • ZNF76:zinc finger protein 76 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6p21.33-21.2
Genomic location:
Chr6: 30695893 - 36953949 (on Assembly GRCh37)
Preferred name:
NC_000006.11:g.(?_30695893)_(36953949_?)dup
HGVS:
NC_000006.11:g.(?_30695893)_(36953949_?)dup

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
SCV003796423Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jul 12, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV003796423.2

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

Description

A copy number gain of the genomic region encompassing the full coding sequence of the PSMB8 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals affected with PSMB8-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 1, 2024