Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The variant allele was found at a frequency of 0.575 in 151922 control chromosomes in the gnomAD Genomes database, including 26137 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as drug response (no stars).
Verdict is Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.575AC: 87415AN: 151922Hom.: 26137Cov.: 31
Submissions by phenotype
|drug response, no assertion criteria provided||research||Pharmacogenomics Lab, Chungbuk National University||Aug 31, 2010||- likely responsive|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at