NM_000397.4(CYBB):c.532A>C (p.Thr178Pro) AND Chronic granulomatous disease

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000208608.2

Allele description [Variation Report for NM_000397.4(CYBB):c.532A>C (p.Thr178Pro)]

NM_000397.4(CYBB):c.532A>C (p.Thr178Pro)

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.532A>C (p.Thr178Pro)

HGVS:

NC_000023.11:g.37795999A>C
NG_009065.1:g.20979A>C
NM_000397.4:c.532A>CMANE SELECT
NP_000388.2:p.Thr178Pro
NP_000388.2:p.Thr178Pro
LRG_53t1:c.532A>C
LRG_53:g.20979A>C
LRG_53p1:p.Thr178Pro
NC_000023.10:g.37655252A>C
NM_000397.3:c.532A>C
P04839:p.Thr178Pro

Protein change:

T178P; THR178PRO

Links:

UniProtKB: P04839#VAR_065365; UniProtKB/Swiss-Prot: VAR_065365; OMIM: 300481.0023; dbSNP: rs151344497

NCBI 1000 Genomes Browser:

rs151344497

Molecular consequence:

NM_000397.4:c.532A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Chronic granulomatous disease
Identifiers:: MONDO: MONDO:0018305; MedGen: C0018203; OMIM: PS306400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000264459	GeneReviews	no classification provided	not provided	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

SCV000264459

GeneReviews

no classification provided

not provided

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	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.

Bustamante J, Arias AA, Vogt G, Picard C, Galicia LB, Prando C, Grant AV, Marchal CC, Hubeau M, Chapgier A, de Beaucoudrey L, Puel A, Feinberg J, Valinetz E, Jannière L, Besse C, Boland A, Brisseau JM, Blanche S, Lortholary O, Fieschi C, Emile JF, et al.

Nat Immunol. 2011 Mar;12(3):213-21. doi: 10.1038/ni.1992. Epub 2011 Jan 30.

PubMed [citation]

PMID:: 21278736
PMCID:: PMC3097900

Details of each submission

From GeneReviews, SCV000264459.2

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

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

Last Updated: Apr 15, 2023

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