NM_000640.3:c.521+566A>C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000640.3(IL13RA2):c.521+566A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.273 in 110,328 control chromosomes in the GnomAD database, including 4,975 homozygotes. There are 8,134 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_000640.3 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: 0.273 AC: 30073AN: 110273Hom.: 4969 Cov.: 22 AF XY: 0.249 AC XY: 8097AN XY: 32537
GnomAD4 genome AF: 0.273 AC: 30121AN: 110328Hom.: 4975 Cov.: 22 AF XY: 0.249 AC XY: 8134AN XY: 32602
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at