Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000418817.5(IL1B):c.-146C>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.556 in 151922 control chromosomes in the gnomAD Genomes database, including 24620 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: 0.556AC: 84516AN: 151922Hom.: 24620Cov.: 32 GnomAD4 exome AF: 0.624AC: 767AN: 1230Hom.: 255 AF XY: 0.614AC XY: 387AN XY: 630
Submissions by phenotype
Gastric cancer susceptibility after h. pylori infection
|risk factor, no assertion criteria provided||literature only||OMIM||Nov 04, 2021||- -|
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