rs1014876
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000898.5(MAOB):c.280-4697T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0195 in 111,002 control chromosomes in the GnomAD database, including 60 homozygotes. There are 650 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.280-4697T>C | intron_variant | ENST00000378069.5 | |||
MAOB | XM_017029524.3 | c.232-4697T>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAOB | ENST00000378069.5 | c.280-4697T>C | intron_variant | 1 | NM_000898.5 | P1 | |||
MAOB | ENST00000487544.1 | n.606-4697T>C | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0194 AC: 2156AN: 110953Hom.: 57 Cov.: 23 AF XY: 0.0196 AC XY: 650AN XY: 33127
GnomAD4 genome ? AF: 0.0195 AC: 2165AN: 111002Hom.: 60 Cov.: 23 AF XY: 0.0196 AC XY: 650AN XY: 33186
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at