rs12391346
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_000898.5(MAOB):c.46+1514G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00763 in 111,847 control chromosomes in the GnomAD database, including 6 homozygotes. There are 256 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
Consequence
NM_000898.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MAOB | ENST00000378069.5 | c.46+1514G>A | intron_variant | Intron 1 of 14 | 1 | NM_000898.5 | ENSP00000367309.4 | |||
MAOB | ENST00000468431.1 | n.50+1514G>A | intron_variant | Intron 1 of 2 | 3 | |||||
MAOB | ENST00000487544.1 | n.182+1514G>A | intron_variant | Intron 1 of 6 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00761 AC: 851AN: 111793Hom.: 7 Cov.: 24 AF XY: 0.00741 AC XY: 252AN XY: 34011
GnomAD4 genome AF: 0.00763 AC: 853AN: 111847Hom.: 6 Cov.: 24 AF XY: 0.00751 AC XY: 256AN XY: 34075
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at