rs6520901
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_000898.5(MAOB):c.769-141G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00118 in 468,123 control chromosomes in the GnomAD database, including 3 homozygotes. There are 144 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 -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAOB | NM_000898.5 | c.769-141G>C | intron_variant | ENST00000378069.5 | |||
MAOB | XM_017029524.3 | c.721-141G>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAOB | ENST00000378069.5 | c.769-141G>C | intron_variant | 1 | NM_000898.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00353 AC: 394AN: 111665Hom.: 2 Cov.: 23 AF XY: 0.00325 AC XY: 110AN XY: 33865
GnomAD4 exome AF: 0.000421 AC: 150AN: 356408Hom.: 1 AF XY: 0.000289 AC XY: 27AN XY: 93310
GnomAD4 genome ? AF: 0.00361 AC: 403AN: 111715Hom.: 2 Cov.: 23 AF XY: 0.00345 AC XY: 117AN XY: 33925
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at