U.S. flag

An official website of the United States government

NM_000101.4(CYBA):c.467C>A (p.Pro156Gln) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 15, 1991
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:
RCV000002348.2

Allele description

NM_000101.4(CYBA):c.467C>A (p.Pro156Gln)

Gene:
CYBA:cytochrome b-245 alpha chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.2
Genomic location:
Preferred name:
NM_000101.4(CYBA):c.467C>A (p.Pro156Gln)
HGVS:
  • NC_000016.10:g.88643474G>T
  • NG_007291.1:g.12576C>A
  • NM_000101.4:c.467C>AMANE SELECT
  • NP_000092.2:p.Pro156Gln
  • LRG_52:g.12576C>A
  • NC_000016.9:g.88709882G>T
  • NM_000101.3:c.467C>A
  • P13498:p.Pro156Gln
Protein change:
P156Q; PRO156GLN
Links:
UniProtKB: P13498#VAR_005126; OMIM: 608508.0005; dbSNP: rs104894515
NCBI 1000 Genomes Browser:
rs104894515
Molecular consequence:
  • NM_000101.4:c.467C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
Synonyms:
CGD DUE TO DEFICIENCY OF THE ALPHA SUBUNIT OF CYTOCHROME b; CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-NEGATIVE; CYBA DEFICIENCY
Identifiers:
MONDO: MONDO:0009308; MedGen: C1856255; Orphanet: 379; OMIM: 233690

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000022506OMIM
no assertion criteria provided
Pathogenic
(Dec 15, 1991) 		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

Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease.

Dinauer MC, Pierce EA, Erickson RW, Muhlebach TJ, Messner H, Orkin SH, Seger RA, Curnutte JT.

Proc Natl Acad Sci U S A. 1991 Dec 15;88(24):11231-5.

PubMed [citation]
PMID:
1763037
PMCID:
PMC53108

Details of each submission

From OMIM, SCV000022506.1

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

Description

In a 22-year-old Caucasian female with autosomal recessive cytochrome b-negative CGD (233690) who was the offspring of consanguineous parents, Dinauer et al. (1991) identified a homozygous C-to-A transversion in the CYBA gene that predicted a nonconservative pro156-to-gln (P156Q).

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

Last Updated: Apr 18, 2020