NM_000101.4(CYBA):c.467C>A (p.Pro156Gln) 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:: RCV000208600.2

Allele description [Variation Report for NM_000101.4(CYBA):c.467C>A (p.Pro156Gln)]

NM_000101.4(CYBA):c.467C>A (p.Pro156Gln)

Gene:

CYBA:cytochrome b-245 alpha chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.2

Genomic location:

Preferred name:

NM_000101.4(CYBA):c.467C>A (p.Pro156Gln)

HGVS:

NC_000016.10:g.88643474G>T
NG_007291.1:g.12576C>A
NM_000101.4:c.467C>AMANE SELECT
NP_000092.2:p.Pro156Gln
LRG_52:g.12576C>A
NC_000016.9:g.88709882G>T
NM_000101.3:c.467C>A
P13498:p.Pro156Gln

Protein change:

P156Q; PRO156GLN

Links:

UniProtKB: P13498#VAR_005126; OMIM: 608508.0005; dbSNP: rs104894515

NCBI 1000 Genomes Browser:

rs104894515

Molecular consequence:

NM_000101.4:c.467C>A - 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
SCV000264458	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

SCV000264458

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

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Roos D, Kuhns DB, Maddalena A, Bustamante J, Kannengiesser C, de Boer M, van Leeuwen K, Köker MY, Wolach B, Roesler J, Malech HL, Holland SM, Gallin JI, Stasia MJ.

Blood Cells Mol Dis. 2010 Apr 15;44(4):291-9. doi: 10.1016/j.bcmd.2010.01.009. Epub 2010 Feb 18. Review.

PubMed [citation]

PMID:: 20167518
PMCID:: PMC4568122

Details of each submission

From GeneReviews, SCV000264458.2

#	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: Aug 5, 2023

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