Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_003529(CDKN2B-AS1):n.2698+1211A>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 0.405 in 151950 control chromosomes in the gnomAD Genomes database, including 13962 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as risk factor (no stars).
NR_003529 intron, non_coding_transcript
Verdict is Benign. Variant got -12 ACMG points.
GnomAD3 genomes AF: 0.405AC: 61532AN: 151950Hom.: 13962Cov.: 32
Submissions by phenotype
Three Vessel Coronary Disease
|risk factor, no assertion criteria provided||clinical testing||Department of Cardiology, Chinese Academy of Medical Sciences, Fuwai Hospital||-||- -|
Find out detailed SpliceAI scores and Pangolin per-transcript scores at