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NM_000397.4(CYBB):c.532A>C (p.Thr178Pro) AND X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 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:
RCV000022862.6

Allele description [Variation Report for NM_000397.4(CYBB):c.532A>C (p.Thr178Pro)]

NM_000397.4(CYBB):c.532A>C (p.Thr178Pro)

Gene:
CYBB:cytochrome b-245 beta chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_000397.4(CYBB):c.532A>C (p.Thr178Pro)
HGVS:
  • NC_000023.11:g.37795999A>C
  • NG_009065.1:g.20979A>C
  • NM_000397.4:c.532A>CMANE SELECT
  • NP_000388.2:p.Thr178Pro
  • NP_000388.2:p.Thr178Pro
  • LRG_53t1:c.532A>C
  • LRG_53:g.20979A>C
  • LRG_53p1:p.Thr178Pro
  • NC_000023.10:g.37655252A>C
  • NM_000397.3:c.532A>C
  • P04839:p.Thr178Pro
Protein change:
T178P; THR178PRO
Links:
UniProtKB: P04839#VAR_065365; UniProtKB/Swiss-Prot: VAR_065365; OMIM: 300481.0023; dbSNP: rs151344497
NCBI 1000 Genomes Browser:
rs151344497
Molecular consequence:
  • NM_000397.4:c.532A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Synonyms:
Atypical mycobacteriosis, familial, X-linked 2; IMMUNODEFICIENCY 34; IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED
Identifiers:
MONDO: MONDO:0010389; MedGen: C1970859; Orphanet: 319605; OMIM: 300645

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044153OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 2011) 		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

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.

Bustamante J, Arias AA, Vogt G, Picard C, Galicia LB, Prando C, Grant AV, Marchal CC, Hubeau M, Chapgier A, de Beaucoudrey L, Puel A, Feinberg J, Valinetz E, Jannière L, Besse C, Boland A, Brisseau JM, Blanche S, Lortholary O, Fieschi C, Emile JF, et al.

Nat Immunol. 2011 Mar;12(3):213-21. doi: 10.1038/ni.1992. Epub 2011 Jan 30.

PubMed [citation]
PMID:
21278736
PMCID:
PMC3097900

Details of each submission

From OMIM, SCV000044153.2

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

Description

In 3 maternally related French males with X-linked familial atypical mycobacteriosis (IMD34; 300645), Bustamante et al. (2011) identified an A-to-C transversion in exon 6 of the CYBB gene that resulted in a thr178-to-pro (T178P) substitution in the transmembrane region of the protein. The mutation resulted in an impaired respiratory burst in macrophages, but not in granulocytes or monocytes. All 3 patients had BCG disease. They were otherwise healthy, with no clinical chronic granulomatous disease (CGD; 306400), a finding confirmed by laboratory tests.

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

Last Updated: Apr 15, 2023