X-28789425-G-A
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 4P and 5B. PP3_StrongBP6BS2
The NM_014271.4(IL1RAPL1):c.82G>A(p.Ala28Thr) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000145 in 1,175,560 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 8 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. A28A) has been classified as Likely benign.
Frequency
Consequence
NM_014271.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IL1RAPL1 | NM_014271.4 | c.82G>A | p.Ala28Thr | missense_variant, splice_region_variant | 2/11 | ENST00000378993.6 | |
IL1RAPL1 | XM_017029240.2 | c.82G>A | p.Ala28Thr | missense_variant, splice_region_variant | 2/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL1RAPL1 | ENST00000378993.6 | c.82G>A | p.Ala28Thr | missense_variant, splice_region_variant | 2/11 | 1 | NM_014271.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000268 AC: 3AN: 111760Hom.: 0 Cov.: 23 AF XY: 0.0000295 AC XY: 1AN XY: 33944
GnomAD3 exomes AF: 0.0000164 AC: 3AN: 183295Hom.: 0 AF XY: 0.0000148 AC XY: 1AN XY: 67773
GnomAD4 exome AF: 0.0000132 AC: 14AN: 1063800Hom.: 0 Cov.: 26 AF XY: 0.0000210 AC XY: 7AN XY: 332562
GnomAD4 genome AF: 0.0000268 AC: 3AN: 111760Hom.: 0 Cov.: 23 AF XY: 0.0000295 AC XY: 1AN XY: 33944
ClinVar
Submissions by phenotype
Intellectual disability, X-linked 21 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Sep 06, 2021 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 19, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at