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NM_000433.4(NCF2):c.383C>T (p.Ala128Val) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Nov 1, 1999
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:
RCV000002334.5

Allele description [Variation Report for NM_000433.4(NCF2):c.383C>T (p.Ala128Val)]

NM_000433.4(NCF2):c.383C>T (p.Ala128Val)

Gene:
NCF2:neutrophil cytosolic factor 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q25.3
Genomic location:
Preferred name:
NM_000433.4(NCF2):c.383C>T (p.Ala128Val)
HGVS:
  • NC_000001.11:g.183574605G>A
  • NG_007267.1:g.20977C>T
  • NM_000433.4:c.383C>TMANE SELECT
  • NM_001127651.3:c.383C>T
  • NM_001190789.2:c.366+2994C>T
  • NM_001190794.2:c.367-1313C>T
  • NP_000424.2:p.Ala128Val
  • NP_000424.2:p.Ala128Val
  • NP_001121123.1:p.Ala128Val
  • LRG_88t1:c.383C>T
  • LRG_88:g.20977C>T
  • LRG_88p1:p.Ala128Val
  • NC_000001.10:g.183543740G>A
  • NM_000433.3:c.383C>T
  • P19878:p.Ala128Val
Protein change:
A128V; ALA128VAL
Links:
UniProtKB: P19878#VAR_017389; UniProtKB/Swiss-Prot: VAR_017389; OMIM: 608515.0007; dbSNP: rs119103274
NCBI 1000 Genomes Browser:
rs119103274
Molecular consequence:
  • NM_001190789.2:c.366+2994C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001190794.2:c.367-1313C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000433.4:c.383C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127651.3:c.383C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
Synonyms:
CGD, AUTOSOMAL RECESSIVE CYTOCHROME b-POSITIVE, TYPE II; GRANULOMATOUS DISEASE, CHRONIC, DUE TO NCF2 DEFICIENCY; GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2
Identifiers:
MONDO: MONDO:0009310; MedGen: C1856245; Orphanet: 379; OMIM: 233710

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000022492OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 1999) 		germlineliterature only

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

SCV000090888UniProtKB/Swiss-Prot
no classification provided
not providedgermlinenot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase.

Noack D, Rae J, Cross AR, Muñoz J, Salmen S, Mendoza JA, Rossi N, Curnutte JT, Heyworth PG.

Hum Genet. 1999 Nov;105(5):460-7.

PubMed [citation]
PMID:
10598813

Details of each submission

From OMIM, SCV000022492.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a family with p67-phox-deficient chronic granulomatous disease (CGD2; 233710), Noack et al. (1999) identified a 383C-T transition in exon 5 of the NCF2 gene, resulting in an ala128-to-val (A128V) amino acid substitution. The mutation was present in homozygous state in 2 affected sibs.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From UniProtKB/Swiss-Prot, SCV000090888.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023