rs774749917
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001142784.3(IL11RA):āc.82C>Gā(p.Gln28Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000187 in 1,605,686 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001142784.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IL11RA | ENST00000441545.7 | c.82C>G | p.Gln28Glu | missense_variant | Exon 2 of 13 | 5 | NM_001142784.3 | ENSP00000394391.3 | ||
ENSG00000258728 | ENST00000556278.1 | c.514C>G | p.Gln172Glu | missense_variant | Exon 5 of 8 | 5 | ENSP00000451792.1 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151834Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000138 AC: 2AN: 1453852Hom.: 0 Cov.: 30 AF XY: 0.00000277 AC XY: 2AN XY: 723176
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151834Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74160
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at