Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_153758(IL19):c.-149+1984T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.686 in 151940 control chromosomes in the gnomAD Genomes database, including 36691 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Verdict is Benign. Variant got -14 ACMG points.
GnomAD3 genomes AF: 0.686AC: 104271AN: 151940Hom.: 36691Cov.: 31
Submissions by phenotype
Graft-versus-host disease, resistance to
|protective, no assertion criteria provided||literature only||OMIM||Dec 04, 2003||- -|
Inflammatory bowel disease
|Benign, criteria provided, single submitter||clinical testing||Invitae||Nov 01, 2022||- -|
Susceptibility to HIV infection
|risk factor, no assertion criteria provided||literature only||OMIM||Dec 04, 2003||- -|
|other, no assertion criteria provided||research||Department of Surgery, Campus Charité Mitte Campus Virchow-klinikum, Charite-Universitaetsmedizin Berlin||Dec 10, 2022||No association with disease-free or overall survival after resection of intrahepatic Cholangiocarcinoma No association with disease-free or overall survival|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at