rs2383206
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000422420.2(CDKN2B-AS1):n.134+1228A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.495 in 151,922 control chromosomes in the GnomAD database, including 18,894 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.
Frequency
Consequence
ENST00000422420.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CDKN2B-AS1 | ENST00000422420.2 | n.134+1228A>G | intron_variant | Intron 1 of 2 | 1 | |||||
CDKN2B-AS1 | ENST00000428597.6 | n.2908+1228A>G | intron_variant | Intron 16 of 18 | 1 | |||||
CDKN2B-AS1 | ENST00000577551.5 | n.609+2632A>G | intron_variant | Intron 4 of 6 | 1 |
Frequencies
GnomAD3 genomes AF: 0.496 AC: 75225AN: 151804Hom.: 18897 Cov.: 32 show subpopulations
GnomAD4 genome AF: 0.495 AC: 75253AN: 151922Hom.: 18894 Cov.: 32 AF XY: 0.491 AC XY: 36427AN XY: 74222 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at