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NM_001099857.5(IKBKG):c.517C>G (p.Arg173Gly) AND Immunodeficiency 33

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2007
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:
RCV000012224.6

Allele description [Variation Report for NM_001099857.5(IKBKG):c.517C>G (p.Arg173Gly)]

NM_001099857.5(IKBKG):c.517C>G (p.Arg173Gly)

Gene:
IKBKG:inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001099857.5(IKBKG):c.517C>G (p.Arg173Gly)
HGVS:
  • NC_000023.11:g.154558649C>G
  • NG_009896.1:g.21406C>G
  • NM_001099856.6:c.721C>G
  • NM_001099857.5:c.517C>GMANE SELECT
  • NM_001145255.4:c.517C>G
  • NM_001321396.3:c.517C>G
  • NM_001321397.3:c.514C>G
  • NM_001377312.1:c.517C>G
  • NM_001377313.1:c.514C>G
  • NM_001377314.1:c.514C>G
  • NM_001377315.1:c.399+2273C>G
  • NM_003639.4:c.517C>G
  • NP_001093326.2:p.Arg241Gly
  • NP_001093327.1:p.Arg173Gly
  • NP_001138727.1:p.Arg173Gly
  • NP_001308325.1:p.Arg173Gly
  • NP_001308326.1:p.Arg172Gly
  • NP_001364241.1:p.Arg173Gly
  • NP_001364242.1:p.Arg172Gly
  • NP_001364243.1:p.Arg172Gly
  • NP_003630.1:p.Arg173Gly
  • LRG_70t1:c.517C>G
  • LRG_70:g.21406C>G
  • NC_000023.10:g.153786864C>G
  • NM_003639.3:c.517C>G
  • Q9Y6K9:p.Arg173Gly
Protein change:
R172G; ARG173GLY
Links:
UniProtKB: Q9Y6K9#VAR_031958; UniProtKB/Swiss-Prot: VAR_031958; OMIM: 300248.0023; dbSNP: rs179363866
NCBI 1000 Genomes Browser:
rs179363866
Molecular consequence:
  • NM_001377315.1:c.399+2273C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001099856.6:c.721C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099857.5:c.517C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145255.4:c.517C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321396.3:c.517C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321397.3:c.514C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377312.1:c.517C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377313.1:c.514C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377314.1:c.514C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003639.4:c.517C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Immunodeficiency 33 (IMD33)
Synonyms:
Immunodeficiency without anhidrotic ectodermal dysplasia; X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Identifiers:
MONDO: MONDO:0010386; MedGen: C1970879; Orphanet: 319605; Orphanet: 319612; OMIM: 300636

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000032458OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2007) 		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

IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.

Ku CL, Picard C, Erdös M, Jeurissen A, Bustamante J, Puel A, von Bernuth H, Filipe-Santos O, Chang HH, Lawrence T, Raes M, Maródi L, Bossuyt X, Casanova JL.

J Med Genet. 2007 Jan;44(1):16-23. Epub 2006 Sep 1.

PubMed [citation]
PMID:
16950813
PMCID:
PMC2597905

Details of each submission

From OMIM, SCV000032458.4

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

Description

In a 4.5-year-old boy, born to unrelated Belgian parents, with immunodeficiency-33 (IMD33; 300636), Ku et al. (2007) identified a hemizygous c.518C-G transversion at the end of exon 4 of the NEMO gene, predicted to result in an arg173-to-gly (R173G) substitution at a conserved residue in the first coiled-coil domain. The mother was heterozygous for this mutation. RT-PCR analysis of patient cells showed the presence of 2 abnormal splicing products corresponding to the skipping of exons 4-6 and exons 5-6. Since the mutation occurred 2 nucleotides away from the end of the exon, it had abnormal splicing effects. Western blot analysis of patient cells showed decreased levels of NEMO compared to controls, suggesting partial NEMO deficiency. Patient fibroblasts showed impaired responses to IL1B and TNFA, suggesting impaired activation of NF-kappa-B. There was also an impaired cellular response to interleukin-1 receptor (IL1R; 147810), Toll-like receptor (TLR; see 601194), and tumor necrosis factor receptor (TNFR; see 191190) stimulation.

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

Last Updated: Jul 29, 2024