rs12394221

Positions:

• chrX-43810702-A-G
• chrX-43810702-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_000898.5(MAOB):​c.280-7298T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0637 in 111,865 control chromosomes in the GnomAD database, including 423 homozygotes. There are 2,051 hemizygotes in GnomAD. 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 0.064 (423 hom., 2051 hem., cov: 23)
• Consequence: MAOB NM_000898.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.595

Genes affected

MAOB (HGNC:6834): (monoamine oxidase B) The protein encoded by this gene belongs to the flavin monoamine oxidase family. It is a enzyme located in the mitochondrial outer membrane. It catalyzes the oxidative deamination of biogenic and xenobiotic amines and plays an important role in the metabolism of neuroactive and vasoactive amines in the central nervous sysytem and peripheral tissues. This protein preferentially degrades benzylamine and phenylethylamine. [provided by RefSeq, Jul 2008]

MAOB (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.18 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
MAOB	NM_000898.5	c.280-7298T>C		intron_variant		ENST00000378069.5	NP_000889.3
MAOB	XM_017029524.3	c.232-7298T>C		intron_variant			XP_016885013.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
MAOB	ENST00000378069.5	c.280-7298T>C		intron_variant		1	NM_000898.5	ENSP00000367309.4
MAOB	ENST00000487544.1	n.606-7298T>C		intron_variant		5

Frequencies

GnomAD3 genomes AF: 0.0636 AC: 7109 AN: 111812 Hom.: 421 Cov.: 23 AF XY: 0.0600 AC XY: 2038 AN XY: 33992

Gnomad AFR AF: 0.184

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0288

Gnomad ASJ AF: 0.0166

Gnomad EAS AF: 0.101

Gnomad SAS AF: 0.176

Gnomad FIN AF: 0.00164

Gnomad MID AF: 0.00840

Gnomad NFE AF: 0.00355

Gnomad OTH AF: 0.0632

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

GnomAD4 genome AF: 0.0637 AC: 7127 AN: 111865 Hom.: 423 Cov.: 23 AF XY: 0.0602 AC XY: 2051 AN XY: 34055

Gnomad4 AFR AF: 0.184

Gnomad4 AMR AF: 0.0287

Gnomad4 ASJ AF: 0.0166

Gnomad4 EAS AF: 0.101

Gnomad4 SAS AF: 0.174

Gnomad4 FIN AF: 0.00164

Gnomad4 NFE AF: 0.00355

Gnomad4 OTH AF: 0.0723

Alfa AF: 0.00944 Hom.: 305

Bravo AF: 0.0722

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.58
DANN	Benign	0.37

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

Publications

LitVar

Other links and lift over

dbSNP: rs12394221; hg19: chrX-43669949;