Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000575.5(IL1A):c.340G>T(p.Ala114Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.257 in 151936 control chromosomes in the gnomAD Genomes database, including 5326 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Verdict is Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.257AC: 39015AN: 151936Hom.: 5326Cov.: 32 GnomAD3 exomes AF: 0.270AC: 67603AN: 250734Hom.: 9650 AF XY: 0.275AC XY: 37261AN XY: 135534 GnomAD4 exome AF: 0.290AC: 421059AN: 1452046Hom.: 62644 AF XY: 0.291AC XY: 210151AN XY: 720964
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at