NM_000397.4(CYBB):c.625C>T (p.His209Tyr) AND Granulomatous disease, chronic, X-linked

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 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:: RCV000011669.2

Allele description [Variation Report for NM_000397.4(CYBB):c.625C>T (p.His209Tyr)]

NM_000397.4(CYBB):c.625C>T (p.His209Tyr)

Gene:

CYBB:cytochrome b-245 beta chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.1

Genomic location:

Preferred name:

NM_000397.4(CYBB):c.625C>T (p.His209Tyr)

HGVS:

NC_000023.11:g.37796092C>T
NG_009065.1:g.21072C>T
NM_000397.4:c.625C>TMANE SELECT
NP_000388.2:p.His209Tyr
NP_000388.2:p.His209Tyr
LRG_53t1:c.625C>T
LRG_53:g.21072C>T
LRG_53p1:p.His209Tyr
NC_000023.10:g.37655345C>T
NM_000397.3:c.625C>T
P04839:p.His209Tyr

Protein change:

H209Y; HIS209TYR

Links:

UniProtKB: P04839#VAR_002434; UniProtKB/Swiss-Prot: VAR_002434; OMIM: 300481.0003; dbSNP: rs137854587

NCBI 1000 Genomes Browser:

rs137854587

Molecular consequence:

NM_000397.4:c.625C>T - missense variant - [Sequence Ontology: SO:0001583]

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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Capsella grandiflora isolate 1-10t At1g15240-like protein gene, partial cds
gi|341605858|gb|JF821303.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031901	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 1991)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031901

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 1991)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease.

Bolscher BG, de Boer M, de Klein A, Weening RS, Roos D.

Blood. 1991 Jun 1;77(11):2482-7.

PubMed [citation]

PMID:: 1710153

Details of each submission

From OMIM, SCV000031901.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a patient with classic CGD (306400), Bolscher et al. (1991) identified a C-to-T change in the CYBB gene, resulting in a his209-to-tyr (H209Y) substitution.

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

Last Updated: Aug 5, 2023

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