rs721953
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_017416.2(IL1RAPL2):c.772+70076G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.397 in 110,467 control chromosomes in the GnomAD database, including 8,832 homozygotes. There are 12,748 hemizygotes in GnomAD. 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
NM_017416.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.396 AC: 43771AN: 110422Hom.: 8822 Cov.: 23 AF XY: 0.388 AC XY: 12702AN XY: 32730
GnomAD4 genome AF: 0.397 AC: 43827AN: 110467Hom.: 8832 Cov.: 23 AF XY: 0.389 AC XY: 12748AN XY: 32785
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at