U.S. flag

An official website of the United States government

NM_000433.4(NCF2):c.1460T>C (p.Leu487Ser) AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 1, 2021
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:
RCV001297327.5

Allele description

NM_000433.4(NCF2):c.1460T>C (p.Leu487Ser)

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.1460T>C (p.Leu487Ser)
HGVS:
  • NC_000001.11:g.183560104A>G
  • NG_007267.1:g.35478T>C
  • NM_000433.4:c.1460T>CMANE SELECT
  • NM_001127651.3:c.1460T>C
  • NM_001190789.2:c.1217T>C
  • NM_001190794.2:c.1325T>C
  • NP_000424.2:p.Leu487Ser
  • NP_001121123.1:p.Leu487Ser
  • NP_001177718.1:p.Leu406Ser
  • NP_001177723.1:p.Leu442Ser
  • LRG_88:g.35478T>C
  • NC_000001.10:g.183529239A>G
Protein change:
L406S
Links:
dbSNP: rs896210830
NCBI 1000 Genomes Browser:
rs896210830
Molecular consequence:
  • NM_000433.4:c.1460T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127651.3:c.1460T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190789.2:c.1217T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190794.2:c.1325T>C - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001486335Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 1, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001486335.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change replaces leucine with serine at codon 487 of the NCF2 protein (p.Leu487Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with NCF2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Aug 5, 2023