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NM_000397.4(CYBB):c.1151+6T>A AND Granulomatous disease, chronic, X-linked

Germline classification:
Pathogenic (1 submission)
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:
RCV003329128.2

Allele description [Variation Report for NM_000397.4(CYBB):c.1151+6T>A]

NM_000397.4(CYBB):c.1151+6T>A

Gene:
CYBB:cytochrome b-245 beta chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_000397.4(CYBB):c.1151+6T>A
HGVS:
  • NC_000023.11:g.37804136T>A
  • NG_009065.1:g.29120T>A
  • NM_000397.4:c.1151+6T>AMANE SELECT
  • LRG_53:g.29120T>A
  • NC_000023.10:g.37663389T>A
Molecular consequence:
  • NM_000397.4:c.1151+6T>A - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Granulomatous disease, chronic, X-linked
Synonyms:
CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, SOMATIC MOSAIC
Identifiers:
MONDO: MONDO:0010600; MedGen: C1844376; Orphanet: 379; OMIM: 306400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003842274Pediatric Infectious Diseases and Immunodeficiencies Unit (UPIIP)- HUVH-VHIR, Vall d'Hebron University Hospital
no assertion criteria provided
Pathogenicmaternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Europeanmaternalyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Pediatric Infectious Diseases and Immunodeficiencies Unit (UPIIP)- HUVH-VHIR, Vall d'Hebron University Hospital, SCV003842274.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European1not providednot providedclinical testingnot provided

Description

Two brothers with early onset IBD showed absent oxidase activity in the DHR test. We performed genetic testing and identified the c.1151+6T>A at the CYBB gene. We performed cDNA analysis and discovered that the variant alters the splicing process creating a shorter mRNA (premature stop codon).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 30, 2023