rs727562
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_014271.4(IL1RAPL1):c.703+111823A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.461 in 110,774 control chromosomes in the GnomAD database, including 8,541 homozygotes. There are 14,958 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_014271.4 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 |
---|---|---|---|---|---|---|---|
IL1RAPL1 | NM_014271.4 | c.703+111823A>C | intron_variant | ENST00000378993.6 | |||
IL1RAPL1 | XM_017029240.2 | c.703+111823A>C | intron_variant | ||||
IL1RAPL1 | XM_017029241.2 | c.325+111823A>C | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL1RAPL1 | ENST00000378993.6 | c.703+111823A>C | intron_variant | 1 | NM_014271.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.461 AC: 51040AN: 110721Hom.: 8551 Cov.: 23 AF XY: 0.453 AC XY: 14930AN XY: 32981
GnomAD4 genome ? AF: 0.461 AC: 51057AN: 110774Hom.: 8541 Cov.: 23 AF XY: 0.453 AC XY: 14958AN XY: 33044
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at