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NM_001611.5(ACP5):c.667C>T (p.Gln223Ter) AND Spondyloenchondrodysplasia with immune dysregulation

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 2011
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:
RCV000022706.28

Allele description [Variation Report for NM_001611.5(ACP5):c.667C>T (p.Gln223Ter)]

NM_001611.5(ACP5):c.667C>T (p.Gln223Ter)

Gene:
ACP5:acid phosphatase 5, tartrate resistant [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_001611.5(ACP5):c.667C>T (p.Gln223Ter)
HGVS:
  • NC_000019.10:g.11576311G>A
  • NG_028127.1:g.7676C>T
  • NM_001111034.3:c.667C>T
  • NM_001111035.3:c.667C>T
  • NM_001111036.3:c.667C>T
  • NM_001322023.2:c.667C>T
  • NM_001611.5:c.667C>TMANE SELECT
  • NP_001104504.1:p.Gln223Ter
  • NP_001104505.1:p.Gln223Ter
  • NP_001104506.1:p.Gln223Ter
  • NP_001308952.1:p.Gln223Ter
  • NP_001602.1:p.Gln223Ter
  • LRG_1218t1:c.667C>T
  • LRG_1218:g.7676C>T
  • LRG_1218p1:p.Gln223Ter
  • NC_000019.9:g.11687126G>A
Protein change:
Q223*; GLN223TER
Links:
OMIM: 171640.0002; dbSNP: rs387906669
NCBI 1000 Genomes Browser:
rs387906669
Molecular consequence:
  • NM_001111034.3:c.667C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001111035.3:c.667C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001111036.3:c.667C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322023.2:c.667C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001611.5:c.667C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
Synonyms:
COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA; ROIFMAN IMMUNOSKELETAL SYNDROME; SPONDYLOENCHONDRODYSPLASIA WITH OR WITHOUT IMMUNE DYSREGULATION
Identifiers:
MONDO: MONDO:0011939; MedGen: C1842763; OMIM: 607944

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000043995OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 2011) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.

Renella R, Schaefer E, LeMerrer M, Alanay Y, Kandemir N, Eich G, Costa T, Ballhausen D, Boltshauser E, Bonafé L, Giedion A, Unger S, Superti-Furga A.

Am J Med Genet A. 2006 Mar 15;140(6):541-50.

PubMed [citation]
PMID:
16470600

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.

Briggs TA, Rice GI, Daly S, Urquhart J, Gornall H, Bader-Meunier B, Baskar K, Baskar S, Baudouin V, Beresford MW, Black GC, Dearman RJ, de Zegher F, Foster ES, Francès C, Hayman AR, Hilton E, Job-Deslandre C, Kulkarni ML, Le Merrer M, Linglart A, Lovell SC, et al.

Nat Genet. 2011 Feb;43(2):127-31. doi: 10.1038/ng.748. Epub 2011 Jan 9.

PubMed [citation]
PMID:
21217755
PMCID:
PMC3030921

Details of each submission

From OMIM, SCV000043995.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In an 11-year-old Pakistani boy with spondyloenchondrodysplasia and immune dysregulation (SPENCDI; 607944), born of first-cousin parents and previously reported by Renella et al. (2006) as 'patient 10,' Briggs et al. (2011) identified homozygosity for a 667C-T transition in the ACP5 gene, resulting in a gln223-to-ter (Q223X) substitution. Plasma levels of total TRAP protein were negligible and TRAP 5a protein was undetectable in this patient, indicating an almost complete lack of TRAP synthesis or secretion. In addition to skeletal manifestations, the patient had elevated antinuclear antibody and anti-double-stranded DNA antibody titers and autoimmune hemolytic anemia.

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

Last Updated: Jul 16, 2023