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NM_001002294.3(FMO3):c.923A>G (p.Glu308Gly)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Oct 22, 2019)
Last evaluated:
May 28, 2019
Accession:
VCV000038395.2
Variation ID:
38395
Description:
single nucleotide variant
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NM_001002294.3(FMO3):c.923A>G (p.Glu308Gly)

Allele ID
31357
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q24.3
Genomic location
1: 171083242 (GRCh37) GRCh37 UCSC
1: 171114102 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.171083242A>G
NC_000001.11:g.171114102A>G
NM_006894.6:c.923A>G NP_008825.4:p.Glu308Gly missense
... more HGVS
Protein change
E308G
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.09145 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.16165
Exome Aggregation Consortium (ExAC) 0.15293
The Genome Aggregation Database (gnomAD), exomes 0.15047
Trans-Omics for Precision Medicine (TOPMed) 0.13325
1000 Genomes Project 0.09145
Links
ClinGen: CA038272
UniProtKB: P31513#VAR_002427
OMIM: 136132.0015
dbSNP: rs2266780
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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 May 28, 2019 RCV000290538.2
Benign 1 criteria provided, single submitter - RCV000254132.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FMO3 - - GRCh38
GRCh37
63 88

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: SCV000311647.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Trimethylaminuria
Allele origin: unknown
Mendelics
Accession: SCV001135465.1
Submitted: (Oct 22, 2019)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Trimethylaminuria
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000351252.2
Submitted: (Oct 18, 2016)
Evidence details
Publications
PubMed (2)

Citations for this variant

Title Author Journal Year Link
Flavin-containing monooxygenase 3 gene polymorphisms in Turkish population. Ozhan G Toxicology mechanisms and methods 2012 PMID: 22409263
Trimethylaminuria is caused by mutations of the FMO3 gene in a North American cohort. Akerman BR Molecular genetics and metabolism 1999 PMID: 10479479

Record last updated Jan 09, 2020