rs3027452
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000898.5(MAOB):c.477-1276C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.131 in 111,013 control chromosomes in the GnomAD database, including 833 homozygotes. There are 4,310 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
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MAOB | NM_000898.5 | c.477-1276C>T | intron_variant | ENST00000378069.5 | |||
MAOB | XM_017029524.3 | c.429-1276C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAOB | ENST00000378069.5 | c.477-1276C>T | intron_variant | 1 | NM_000898.5 | P1 | |||
MAOB | ENST00000487544.1 | n.803-1276C>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.131 AC: 14538AN: 110959Hom.: 832 Cov.: 22 AF XY: 0.130 AC XY: 4306AN XY: 33183
GnomAD4 genome ? AF: 0.131 AC: 14538AN: 111013Hom.: 833 Cov.: 22 AF XY: 0.130 AC XY: 4310AN XY: 33247
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at