rs10521698
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000640.3(IL13RA2):c.247-286C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.147 in 110,900 control chromosomes in the GnomAD database, including 942 homozygotes. There are 4,510 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
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IL13RA2 | NM_000640.3 | c.247-286C>A | intron_variant | ENST00000243213.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL13RA2 | ENST00000243213.2 | c.247-286C>A | intron_variant | 1 | NM_000640.3 | P1 | |||
IL13RA2 | ENST00000371936.5 | c.247-286C>A | intron_variant | 5 | P1 | ||||
IL13RA2 | ENST00000468224.1 | n.551-286C>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.147 AC: 16293AN: 110850Hom.: 940 Cov.: 22 AF XY: 0.136 AC XY: 4492AN XY: 33118
GnomAD4 genome AF: 0.147 AC: 16312AN: 110900Hom.: 942 Cov.: 22 AF XY: 0.136 AC XY: 4510AN XY: 33178
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at