U.S. flag

An official website of the United States government

NM_000101.4(CYBA):c.166dup (p.Arg56fs) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 28, 2022
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:
RCV001384757.6

Allele description [Variation Report for NM_000101.4(CYBA):c.166dup (p.Arg56fs)]

NM_000101.4(CYBA):c.166dup (p.Arg56fs)

Gene:
CYBA:cytochrome b-245 alpha chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16q24.2
Genomic location:
Preferred name:
NM_000101.4(CYBA):c.166dup (p.Arg56fs)
HGVS:
  • NC_000016.10:g.88647142dup
  • NG_007291.1:g.8912dup
  • NM_000101.4:c.166dupMANE SELECT
  • NP_000092.2:p.Arg56fs
  • LRG_52:g.8912dup
  • NC_000016.9:g.88713545_88713546insG
  • NC_000016.9:g.88713550dup
Protein change:
R56fs
Links:
dbSNP: rs1352931329
NCBI 1000 Genomes Browser:
rs1352931329
Molecular consequence:
  • NM_000101.4:c.166dup - frameshift variant - [Sequence Ontology: SO:0001589]

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; See all synonyms [MedGen]
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
SCV001584402Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 28, 2022) 		germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Identification of allele-specific p22-phox mutations in a compound heterozygous patient with chronic granulomatous disease by mismatch PCR and restriction enzyme analysis.

Hossle JP, de Boer M, Seger RA, Roos D.

Hum Genet. 1994 Apr;93(4):437-42.

PubMed [citation]
PMID:
8168815

Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients.

Wolach B, Gavrieli R, de Boer M, van Leeuwen K, Berger-Achituv S, Stauber T, Ben Ari J, Rottem M, Schlesinger Y, Grisaru-Soen G, Abuzaitoun O, Marcus N, Zion Garty B, Broides A, Levy J, Stepansky P, Etzioni A, Somech R, Roos D.

Am J Hematol. 2017 Jan;92(1):28-36. doi: 10.1002/ajh.24573. Epub 2016 Nov 18.

PubMed [citation]
PMID:
27701760
See all PubMed Citations (6)

Details of each submission

From Invitae, SCV001584402.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)

Description

This variant results in an extension of the CYBA protein. Other variant(s) that result in a similarly extended protein product (p.Lys58Glufs*155) have been determined to be pathogenic (PMID: 8168815, 20167518, 27701760). This suggests that these extensions are likely to be disease-causing. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1072119). This variant is also known as c.162insC and c.166_167insC. This frameshift has been observed in individual(s) with chronic granulomatous disease (PMID: 10910929, 19292887, 20167518). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change results in a frameshift in the CYBA gene (p.Arg56Profs*157). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 140 amino acid(s) of the CYBA protein and extend the protein by 16 additional amino acid residues. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Feb 14, 2024