X-43795848-C-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP4
The NM_000898.5(MAOB):c.659G>A(p.Arg220Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000108 in 1,208,016 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000898.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000179 AC: 2AN: 111547Hom.: 0 Cov.: 22 AF XY: 0.0000296 AC XY: 1AN XY: 33727
GnomAD3 exomes AF: 0.0000164 AC: 3AN: 182600Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67132
GnomAD4 exome AF: 0.0000100 AC: 11AN: 1096469Hom.: 0 Cov.: 29 AF XY: 0.00000276 AC XY: 1AN XY: 361883
GnomAD4 genome AF: 0.0000179 AC: 2AN: 111547Hom.: 0 Cov.: 22 AF XY: 0.0000296 AC XY: 1AN XY: 33727
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.659G>A (p.R220Q) alteration is located in exon 7 (coding exon 7) of the MAOB gene. This alteration results from a G to A substitution at nucleotide position 659, causing the arginine (R) at amino acid position 220 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at