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NM_000433.3(NCF2):c.1001-10T>G

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000256114.4
Variation ID:
256114
Description:
single nucleotide variant
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NM_000433.3(NCF2):c.1001-10T>G

Allele ID
249582
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q25.3
Genomic location
1: 183564040 (GRCh38) GRCh38 UCSC
1: 183533175 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.183533175A>C
NC_000001.11:g.183564040A>C
NM_001127651.3:c.1001-10T>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:183564039:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00399 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.01497
1000 Genomes Project 0.00399
Exome Aggregation Consortium (ExAC) 0.01297
The Genome Aggregation Database (gnomAD), exomes 0.01212
Trans-Omics for Precision Medicine (TOPMed) 0.01195
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01515
Links
ClinGen: CA1284715
dbSNP: rs36113295
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 17, 2016 RCV000249327.3
Benign 2 criteria provided, multiple submitters, no conflicts Dec 8, 2020 RCV000550625.4
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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
234 260

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000304235.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Nov 17, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000513868.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Jan 12, 2018)
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: SCV000351762.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2
Allele origin: germline
Invitae
Accession: SCV000641902.3
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 rs36113295...

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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 23, 2021