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NC_000016.10:g.(?_88638115)(88648115_88650955)del AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 1990
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:
RCV000002344.3

Allele description [Variation Report for NC_000016.10:g.(?_88638115)(88648115_88650955)del]

NC_000016.10:g.(?_88638115)(88648115_88650955)del

Gene:
CYBA:cytochrome b-245 alpha chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
16q24
Preferred name:
NC_000016.10:g.(?_88638115)(88648115_88650955)del
HGVS:
NC_000016.10:g.(?_88638115)(88648115_88650955)del
Note:
NCBI staff provided an HGVS expression for OMIM allelic variant 608508.0001 consistent with the deletion starting in intron 1 and extending about 10 kb.
Nucleotide change:
10-KB DEL
Links:
dbVar: nssv1415005; dbVar: nsv513777; OMIM: 608508.0001

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000022502OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 1990) 		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

Nothing to display

Details of each submission

From OMIM, SCV000022502.2

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

Description

In a patient with autosomal recessive cytochrome b-negative CGD-4 (CGD4; 233690), whose parents were first cousins, Dinauer et al. (1990) found homozygosity for a large deletion, approximately 10 kb, in the CYBA gene that removed all but the extreme 5-prime coding sequence of the CYBA gene. The patient had originally been reported by Baehner and Nathan (1968).

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

Last Updated: Nov 25, 2023