NM_000433.4(NCF2):c.130G>T (p.Gly44Cys) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 8, 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:: RCV000430894.3

Allele description [Variation Report for NM_000433.4(NCF2):c.130G>T (p.Gly44Cys)]

NM_000433.4(NCF2):c.130G>T (p.Gly44Cys)

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.130G>T (p.Gly44Cys)

HGVS:

NC_000001.11:g.183590200C>A
NG_007267.1:g.5382G>T
NM_000433.4:c.130G>TMANE SELECT
NM_001127651.3:c.130G>T
NM_001190789.2:c.130G>T
NM_001190794.2:c.130G>T
NP_000424.2:p.Gly44Cys
NP_000424.2:p.Gly44Cys
NP_001121123.1:p.Gly44Cys
NP_001177718.1:p.Gly44Cys
NP_001177723.1:p.Gly44Cys
LRG_88t1:c.130G>T
LRG_88:g.5382G>T
LRG_88p1:p.Gly44Cys
NC_000001.10:g.183559335C>A
NM_000433.3:c.130G>T
P19878:p.Gly44Cys

Protein change:

G44C

Links:

UniProtKB: P19878#VAR_065003; UniProtKB/Swiss-Prot: VAR_065003; dbSNP: rs137854510

NCBI 1000 Genomes Browser:

rs137854510

Molecular consequence:

NM_000433.4:c.130G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001127651.3:c.130G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001190789.2:c.130G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001190794.2:c.130G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000513866	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 8, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000513866

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 8, 2020)

germline

clinical testing

Citation Link

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	clinical testing

Details of each submission

From GeneDx, SCV000513866.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20167518, 21190454)

#	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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