NM_000240.4(MAOA):c.374A>G (p.Asn125Ser) AND Brunner syndrome

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jul 30, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001809165.4

Allele description [Variation Report for NM_000240.4(MAOA):c.374A>G (p.Asn125Ser)]

NM_000240.4(MAOA):c.374A>G (p.Asn125Ser)

Gene:

MAOA:monoamine oxidase A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.3

Genomic location:

Preferred name:

NM_000240.4(MAOA):c.374A>G (p.Asn125Ser)

HGVS:

NC_000023.11:g.43711939A>G
NG_008957.2:g.60779A>G
NM_000240.4:c.374A>GMANE SELECT
NM_001270458.2:c.-26A>G
NP_000231.1:p.Asn125Ser
NC_000023.10:g.43571186A>G
NM_000240.3:c.374A>G

Protein change:

N125S

Links:

dbSNP: rs201799429

NCBI 1000 Genomes Browser:

rs201799429

Molecular consequence:

NM_001270458.2:c.-26A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000240.4:c.374A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Brunner syndrome (BRNRS)
Synonyms:: Monoamine oxidase A deficiency
Identifiers:: MONDO: MONDO:0010379; MedGen: C0796275; Orphanet: 3057; OMIM: 300615

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002059605	Centogene AG - the Rare Disease Company	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 14, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003509965	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 30, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002059605

Centogene AG - the Rare Disease Company

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 14, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV003509965

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 30, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Nothing to display

Details of each submission

From Centogene AG - the Rare Disease Company, SCV002059605.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003509965.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MAOA protein function. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 125 of the MAOA protein (p.Asn125Ser). This variant is present in population databases (rs201799429, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MAOA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1333950). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine