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:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003842274	Pediatric Infectious Diseases and Immunodeficiencies Unit (UPIIP)- HUVH-VHIR, Vall d'Hebron University Hospital	no assertion criteria provided	Pathogenic	maternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003842274

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

no assertion criteria provided

Pathogenic

maternal

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
European	maternal	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	European	1	not provided	not provided	clinical testing	not 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).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 30, 2023

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