Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001098629(IRF5):c.-12+198T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.526 in 151418 control chromosomes in the gnomAD Genomes database, including 21275 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Verdict is Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.526AC: 79628AN: 151418Hom.: 21275Cov.: 32 GnomAD4 exome AF: 0.559AC: 113AN: 202Hom.: 37 AF XY: 0.549AC XY: 89AN XY: 162
ClinVarNot reported in
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