rs4252548
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_000641.4(IL11):c.335G>A(p.Arg112His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0224 in 1,582,484 control chromosomes in the GnomAD database, including 521 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000641.4 missense
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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IL11 | NM_000641.4 | c.335G>A | p.Arg112His | missense_variant | 4/5 | ENST00000264563.7 | NP_000632.1 | |
IL11 | NM_001267718.2 | c.98G>A | p.Arg33His | missense_variant | 3/4 | NP_001254647.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IL11 | ENST00000264563.7 | c.335G>A | p.Arg112His | missense_variant | 4/5 | 1 | NM_000641.4 | ENSP00000264563.1 | ||
IL11 | ENST00000585513.1 | c.335G>A | p.Arg112His | missense_variant | 4/5 | 1 | ENSP00000467355.1 | |||
IL11 | ENST00000590625.5 | c.98G>A | p.Arg33His | missense_variant | 3/4 | 2 | ENSP00000465705.1 | |||
IL11 | ENST00000587093.1 | c.98G>A | p.Arg33His | missense_variant | 3/3 | 2 | ENSP00000468663.1 |
Frequencies
GnomAD3 genomes AF: 0.0185 AC: 2807AN: 152082Hom.: 26 Cov.: 31
GnomAD3 exomes AF: 0.0209 AC: 4223AN: 201770Hom.: 63 AF XY: 0.0230 AC XY: 2515AN XY: 109258
GnomAD4 exome AF: 0.0228 AC: 32681AN: 1430284Hom.: 496 Cov.: 33 AF XY: 0.0239 AC XY: 16933AN XY: 708264
GnomAD4 genome AF: 0.0184 AC: 2803AN: 152200Hom.: 25 Cov.: 31 AF XY: 0.0183 AC XY: 1365AN XY: 74394
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at