NM_000397.4(CYBB):c.190T>C (p.Cys64Arg) AND Granulomatous disease, chronic, X-linked

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 20, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001594442.1

Allele description [Variation Report for NM_000397.4(CYBB):c.190T>C (p.Cys64Arg)]

NM_000397.4(CYBB):c.190T>C (p.Cys64Arg)

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.190T>C (p.Cys64Arg)

HGVS:

NC_000023.11:g.37783538T>C
NG_009065.1:g.8522T>C
NM_000397.4:c.190T>CMANE SELECT
NP_000388.2:p.Cys64Arg
LRG_53t1:c.190T>C
LRG_53:g.8522T>C
NC_000023.10:g.37642791T>C
NM_000397.3:c.190T>C

Protein change:

C64R

Links:

dbSNP: rs2146804063

NCBI 1000 Genomes Browser:

rs2146804063

Molecular consequence:

NM_000397.4:c.190T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001499940	Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 20, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 11162142, 25525159, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001499940

Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 20, 2020)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
East Asia	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Hematologically important mutations: X-linked chronic granulomatous disease (second update).

Heyworth PG, Curnutte JT, Rae J, Noack D, Roos D, van Koppen E, Cross AR.

Blood Cells Mol Dis. 2001 Jan-Feb;27(1):16-26. No abstract available.

PubMed [citation]

PMID:: 11162142

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

PubMed [citation]

PMID:: 25525159
PMCID:: PMC4362528

See all PubMed Citations (3)

Details of each submission

From Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital, SCV001499940.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	East Asia	1	not provided	not provided	clinical testing	PubMed (3)

#	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		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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