X-43829718-A-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000898.5(MAOB):c.279+9150T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.37 in 111,289 control chromosomes in the GnomAD database, including 6,700 homozygotes. There are 11,719 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
Ensembl
Frequencies
GnomAD3 genomes AF: 0.369 AC: 41093AN: 111233Hom.: 6698 Cov.: 23 AF XY: 0.349 AC XY: 11688AN XY: 33469
GnomAD4 genome AF: 0.370 AC: 41127AN: 111289Hom.: 6700 Cov.: 23 AF XY: 0.349 AC XY: 11719AN XY: 33535
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at