chrX-30219012-G-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_002364.5(MAGEB2):c.432G>T(p.Arg144Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000662 in 1,209,183 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 3 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002364.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000268 AC: 3AN: 111981Hom.: 0 Cov.: 23 AF XY: 0.0000293 AC XY: 1AN XY: 34151
GnomAD3 exomes AF: 0.0000166 AC: 3AN: 180363Hom.: 0 AF XY: 0.0000154 AC XY: 1AN XY: 64943
GnomAD4 exome AF: 0.00000456 AC: 5AN: 1097202Hom.: 0 Cov.: 32 AF XY: 0.00000552 AC XY: 2AN XY: 362580
GnomAD4 genome AF: 0.0000268 AC: 3AN: 111981Hom.: 0 Cov.: 23 AF XY: 0.0000293 AC XY: 1AN XY: 34151
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at