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NM_000240.3(MAOA):c.133C>T (p.Arg45Trp)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Apr 30, 2018)
Last evaluated:
Nov 10, 2014
Accession:
VCV000208353.1
Variation ID:
208353
Description:
single nucleotide variant
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NM_000240.3(MAOA):c.133C>T (p.Arg45Trp)

Allele ID
204578
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.3
Genomic location
X: 43683572 (GRCh38) GRCh38 UCSC
X: 43542820 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.11:g.43683572C>T
NC_000023.10:g.43542820C>T
NM_001270458.1:c.-267C>T 5 prime UTR
... more HGVS
Protein change
R45W
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA204424
OMIM: 309850.0005
dbSNP: rs796065312
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Nov 10, 2014 RCV000190424.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MAOA Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
44 198

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 10, 2014)
criteria provided, single submitter
Method: clinical testing
Monoamine oxidase A deficiency
(X-linked inheritance)
Allele origin: maternal
GOLD service, Hunter New England Health
Accession: SCV000191919.1
Submitted: (Nov 10, 2014)
Evidence details
Comment:
Phenotype consistent with described MAOA deficiency. Functional studies (bioamine levels in blood and urine) consistent with MAOA deficiency. Predicted Pathogenic PROVEAN, SIFT, Mutation Taster. Not ... (more)
Pathogenic
(Mar 23, 2015)
no assertion criteria provided
Method: literature only
BRUNNER SYNDROME
Allele origin: germline
OMIM
Accession: SCV000747034.1
Submitted: (Apr 30, 2018)
Evidence details
Publications
PubMed (2)

Citations for this variant

Title Author Journal Year Link
New insights into Brunner syndrome and potential for targeted therapy. Palmer EE Clinical genetics 2016 PMID: 25807999
Monoamine oxidase deficiency: a cause of flushing and attention-deficit/ hyperactivity disorder? Cheung NW Archives of internal medicine 2001 PMID: 11700166

Record last updated Jan 13, 2020