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NM_000433.3(NCF2):c.[479A>T;481A>G] AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 24, 1997
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:
RCV000002328.4

Alleles description [Variation Report for NM_000433.3(NCF2):c.[479A>T;481A>G]]

NM_000433.4(NCF2):c.479A>T (p.Asp160Val)

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.479A>T (p.Asp160Val)
Other names:
K160E
HGVS:
  • NC_000001.11:g.183574509T>A
  • NG_007267.1:g.21073A>T
  • NM_000433.4:c.479A>TMANE SELECT
  • NM_001127651.3:c.479A>T
  • NM_001190789.2:c.366+3090A>T
  • NM_001190794.2:c.367-1217A>T
  • NP_000424.2:p.Asp160Val
  • NP_000424.2:p.Asp160Val
  • NP_001121123.1:p.Asp160Val
  • LRG_88t1:c.479A>T
  • LRG_88:g.21073A>T
  • LRG_88p1:p.Asp160Val
  • NC_000001.10:g.183543644T>A
  • NM_000433.3:c.479A>T
Protein change:
D160V; LYS160GLU
Links:
OMIM: 608515.0002; dbSNP: rs267606912
NCBI 1000 Genomes Browser:
rs267606912
Molecular consequence:
  • NM_001190789.2:c.366+3090A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001190794.2:c.367-1217A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000433.4:c.479A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127651.3:c.479A>T - missense variant - [Sequence Ontology: SO:0001583]

NM_000433.4(NCF2):c.481A>G (p.Lys161Glu)

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.481A>G (p.Lys161Glu)
Other names:
D161V
HGVS:
  • NC_000001.11:g.183574507T>C
  • NG_007267.1:g.21075A>G
  • NM_000433.4:c.481A>GMANE SELECT
  • NM_001127651.3:c.481A>G
  • NM_001190789.2:c.366+3092A>G
  • NM_001190794.2:c.367-1215A>G
  • NP_000424.2:p.Lys161Glu
  • NP_000424.2:p.Lys161Glu
  • NP_001121123.1:p.Lys161Glu
  • LRG_88t1:c.481A>G
  • LRG_88:g.21075A>G
  • LRG_88p1:p.Lys161Glu
  • NC_000001.10:g.183543642T>C
  • NM_000433.3:c.481A>G
Protein change:
K161E; ASP161VAL
Links:
OMIM: 608515.0002; dbSNP: rs137878529
NCBI 1000 Genomes Browser:
rs137878529
Molecular consequence:
  • NM_001190789.2:c.366+3092A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001190794.2:c.367-1215A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000433.4:c.481A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127651.3:c.481A>G - 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
SCV000022486OMIM
no assertion criteria provided
Pathogenic
(Feb 24, 1997) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient.

Bonizzato A, Russo MP, Donini M, Dusi S.

Biochem Biophys Res Commun. 1997 Feb 24;231(3):861-3.

PubMed [citation]
PMID:
9070911

Details of each submission

From OMIM, SCV000022486.2

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

Description

In the neutrophils of a patient with p67-phox-deficient chronic granulomatous disease (CGD2; 233710), Bonizzato et al. (1997) found that the NCF2 mRNA was present in normal amount and size. Reverse transcription SSCP analysis followed by direct DNA sequencing identified a heterozygous double substitution: a 479A-T transversion, resulting in a lys160 to glu (K160E) substitution, and a 481A-G transition, resulting in an asp161 to val (D161V) substitution, both in exon 5 of the NCF2 gene. This was a double nonconservative amino acid change. The nature of the mutation on the other allele was not identified.

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

Last Updated: Jan 26, 2024