Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001098629(IRF5):c.*555G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.579 in 152102 control chromosomes in the gnomAD Genomes database, including 25745 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as risk factor (no stars).
Verdict is Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.579AC: 87999AN: 152102Hom.: 25745Cov.: 34 GnomAD4 exome AF: 0.500AC: 105AN: 210Hom.: 28 AF XY: 0.510AC XY: 52AN XY: 102
Submissions by phenotype
Systemic lupus erythematosus, susceptibility to, 10
|risk factor, no assertion criteria provided||literature only||OMIM||Mar 15, 2008||- -|
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