21-46287125-TAAA-TAA
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000397701.9(YBEY):c.210+3delA variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00101 in 1,489,962 control chromosomes in the GnomAD database, with no homozygous occurrence. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000397701.9 splice_region, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000268 AC: 4AN: 149396Hom.: 0 Cov.: 0
GnomAD4 exome AF: 0.00112 AC: 1507AN: 1340566Hom.: 0 Cov.: 31 AF XY: 0.00119 AC XY: 791AN XY: 664034
GnomAD4 genome AF: 0.0000268 AC: 4AN: 149396Hom.: 0 Cov.: 0 AF XY: 0.0000413 AC XY: 3AN XY: 72632
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at