Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_002121.6(HLA-DPB1):c.*550A>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.252 in 152078 control chromosomes in the gnomAD Genomes database, including 5226 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Verdict is Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.252AC: 38313AN: 152078Hom.: 5226Cov.: 32 GnomAD4 exome AF: 0.0329AC: 294AN: 8940Hom.: 21 AF XY: 0.0345AC XY: 154AN XY: 4468
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at