Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_003529.3(CDKN2B-AS1):n.2908+1228A>G variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.496 in 151804 control chromosomes in the gnomAD Genomes database, including 18897 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.
NR_003529.3 intron, non_coding_transcript
Verdict is Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.496AC: 75225AN: 151804Hom.: 18897Cov.: 32
ClinVarNot reported in
Find out detailed SpliceAI scores and Pangolin per-transcript scores at