NM_014271.4:c.845A>G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_014271.4(IL1RAPL1):c.845A>G(p.Tyr282Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. Y282Y) has been classified as Benign.
Frequency
Consequence
NM_014271.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IL1RAPL1 | NM_014271.4 | c.845A>G | p.Tyr282Cys | missense_variant | Exon 7 of 11 | ENST00000378993.6 | NP_055086.1 | |
IL1RAPL1 | XM_017029240.2 | c.845A>G | p.Tyr282Cys | missense_variant | Exon 7 of 11 | XP_016884729.1 | ||
IL1RAPL1 | XM_017029241.2 | c.467A>G | p.Tyr156Cys | missense_variant | Exon 5 of 9 | XP_016884730.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD4 exome Cov.: 27
GnomAD4 genome Cov.: 22
ClinVar
Submissions by phenotype
not provided Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at