rs2072743

Variant names:

• chrX-43740274-T-C
• rs2072743
• NM_000240.4:c.1107-407T>C

Variant summary

Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong

The NM_000240.4(MAOA):​c.1107-407T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.54 (12264 hom., 17440 hem., cov: 23)
  • Failed GnomAD Quality Control
• Consequence: MAOA NM_000240.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.621
• Publications: 14 publications found

Genes affected

MAOA (HGNC:6833): (monoamine oxidase A) This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin. Mutation of this gene results in Brunner syndrome. This gene has also been associated with a variety of other psychiatric disorders, including antisocial behavior. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]

MAOA Gene-Disease associations (from GenCC):

• Brunner syndrome

  Inheritance: XL Classification: DEFINITIVE, STRONG, SUPPORTIVE Submitted by: Orphanet, G2P, ClinGen, Labcorp Genetics (formerly Invitae)

ACMG classification

Our verdict: Likely_benign. The variant received -4 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
MAOA	NM_000240.4	c.1107-407T>C		intron_variant	Intron 10 of 14	ENST00000338702.4	NP_000231.1
MAOA	NM_001270458.2	c.708-407T>C		intron_variant	Intron 11 of 15		NP_001257387.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
MAOA	ENST00000338702.4	c.1107-407T>C		intron_variant	Intron 10 of 14	1	NM_000240.4	ENSP00000340684.3

Frequencies

GnomAD3 genomes AF: 0.537 AC: 59450 AN: 110665 Hom.: 12275 Cov.: 23

Gnomad AFR AF: 0.307

Gnomad AMI AF: 0.550

Gnomad AMR AF: 0.623

Gnomad ASJ AF: 0.628

Gnomad EAS AF: 0.427

Gnomad SAS AF: 0.354

Gnomad FIN AF: 0.591

Gnomad MID AF: 0.623

Gnomad NFE AF: 0.659

Gnomad OTH AF: 0.554

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome Data not reliable, filtered out with message: InbreedingCoeff AF: 0.537 AC: 59447 AN: 110718 Hom.: 12264 Cov.: 23 AF XY: 0.529 AC XY: 17440 AN XY: 32998

African (AFR) AF: 0.307 AC: 9377 AN: 30550

American (AMR) AF: 0.622 AC: 6462 AN: 10389

Ashkenazi Jewish (ASJ) AF: 0.628 AC: 1651 AN: 2627

East Asian (EAS) AF: 0.426 AC: 1493 AN: 3502

South Asian (SAS) AF: 0.355 AC: 953 AN: 2685

European-Finnish (FIN) AF: 0.591 AC: 3421 AN: 5790

Middle Eastern (MID) AF: 0.627 AC: 131 AN: 209

European-Non Finnish (NFE) AF: 0.658 AC: 34751 AN: 52775

Other (OTH) AF: 0.552 AC: 839 AN: 1520

Alfa AF: 0.628 Hom.: 49674

Bravo AF: 0.531

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.9
DANN	Benign	0.73
PhyloP100		0.62
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs2072743; hg19: chrX-43599521;