rs12389958
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001560.3(IL13RA1):c.1009+909C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0677 in 111,379 control chromosomes in the GnomAD database, including 646 homozygotes. There are 1,965 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_001560.3 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 |
---|---|---|---|---|---|---|---|
IL13RA1 | NM_001560.3 | c.1009+909C>A | intron_variant | ENST00000371666.8 | |||
IL13RA1 | XM_047442096.1 | c.1009+909C>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL13RA1 | ENST00000371666.8 | c.1009+909C>A | intron_variant | 1 | NM_001560.3 | P1 | |||
IL13RA1 | ENST00000652600.1 | c.1003+909C>A | intron_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0677 AC: 7538AN: 111324Hom.: 644 Cov.: 23 AF XY: 0.0585 AC XY: 1962AN XY: 33550
GnomAD4 genome ? AF: 0.0677 AC: 7545AN: 111379Hom.: 646 Cov.: 23 AF XY: 0.0585 AC XY: 1965AN XY: 33615
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at