Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The variant allele was found at a frequency of 0.852 in 152006 control chromosomes in the gnomAD Genomes database, including 55318 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: 0.852AC: 129546AN: 152006Hom.: 55318Cov.: 31
Submissions by phenotype
|risk factor, no assertion criteria provided||clinical testing||Department of Endocrinology, The Second Hospital of Jilin University||Dec 26, 2019||We found that loci near TMEM18 (rs6548238) may be associated with obesity-related indicators and may increase susceptibility of concurrent type 2 diabetes associated with obesity. -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at