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NM_000433.4(NCF2):c.298C>G (p.Gln100Glu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 5, 2020
Accession:
VCV000737950.4
Variation ID:
737950
Description:
single nucleotide variant
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NM_000433.4(NCF2):c.298C>G (p.Gln100Glu)

Allele ID
745894
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q25.3
Genomic location
1: 183577667 (GRCh38) GRCh38 UCSC
1: 183546802 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.183546802G>C
NC_000001.11:g.183577667G>C
NM_000433.4:c.298C>G MANE Select NP_000424.2:p.Gln100Glu missense
... more HGVS
Protein change
Q100E
Other names
-
Canonical SPDI
NC_000001.11:183577666:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00103
1000 Genomes Project 0.00120
Trans-Omics for Precision Medicine (TOPMed) 0.00016
The Genome Aggregation Database (gnomAD) 0.00019
Links
dbSNP: rs119103276
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 5, 2020 RCV000913787.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NCF2 - - GRCh38
GRCh37
229 255

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001255517.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Nov 05, 2020)
criteria provided, single submitter
Method: clinical testing
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
Allele origin: germline
Invitae
Accession: SCV001058943.3
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs119103276...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 14, 2021