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NM_004208.4(AIFM1):c.996A>G (p.Gln332=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000136322.6
Variation ID:
136322
Description:
single nucleotide variant
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NM_004208.4(AIFM1):c.996A>G (p.Gln332=)

Allele ID
140025
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq26.1
Genomic location
X: 130137157 (GRCh38) GRCh38 UCSC
X: 129271132 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.129271132T>C
NC_000023.11:g.130137157T>C
NG_013217.1:g.33677A>G
... more HGVS
Protein change
-
Other names
p.Q332Q:CAA>CAG
Canonical SPDI
NC_000023.11:130137156:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.02781 (C)

Allele frequency
1000 Genomes Project 0.02781
The Genome Aggregation Database (gnomAD) 0.03061
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.03588
Exome Aggregation Consortium (ExAC) 0.01223
The Genome Aggregation Database (gnomAD) 0.02530
Trans-Omics for Precision Medicine (TOPMed) 0.03315
The Genome Aggregation Database (gnomAD), exomes 0.00997
Trans-Omics for Precision Medicine (TOPMed) 0.03236
Links
ClinGen: CA289331
dbSNP: rs12007545
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Mar 20, 2013 RCV000123567.1
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000321843.2
Benign 1 criteria provided, single submitter Dec 3, 2020 RCV000468210.4
Benign 2 criteria provided, single submitter Aug 30, 2018 RCV000676786.2
Benign 1 criteria provided, single submitter - RCV001173141.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AIFM1 - - GRCh38
GRCh37
- 412
RAB33A - - GRCh38
GRCh37
- 410

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Mar 20, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000166906.12
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 13, 2018)
criteria provided, single submitter
Method: clinical testing
Combined oxidative phosphorylation deficiency 6
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000481727.3
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
(Aug 30, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001142971.1
Submitted: (Sep 25, 2019)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001336217.1
Submitted: (Apr 07, 2020)
Evidence details
Benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth Neuropathy X
Combined oxidative phosphorylation deficiency
Allele origin: germline
Invitae
Accession: SCV000562798.4
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Mar 11, 2016)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000802588.1
Submitted: (May 23, 2018)
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 rs12007545...

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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 Nov 27, 2021