chrX-43773881-G-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_000898.5(MAOB):c.1235+1294C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.032 in 111,463 control chromosomes in the GnomAD database, including 60 homozygotes. There are 1,005 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.1235+1294C>G | intron_variant | ENST00000378069.5 | |||
MAOB | XM_017029524.3 | c.1187+1294C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MAOB | ENST00000378069.5 | c.1235+1294C>G | intron_variant | 1 | NM_000898.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0320 AC: 3563AN: 111411Hom.: 60 Cov.: 23 AF XY: 0.0299 AC XY: 1005AN XY: 33601
GnomAD4 genome AF: 0.0320 AC: 3562AN: 111463Hom.: 60 Cov.: 23 AF XY: 0.0299 AC XY: 1005AN XY: 33663
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at