rs4252548
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The ENST00000264563.7(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
ENST00000264563.7 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 | P1 | |
IL11 | ENST00000585513.1 | c.335G>A | p.Arg112His | missense_variant | 4/5 | 1 | ENSP00000467355 | P1 | ||
IL11 | ENST00000590625.5 | c.98G>A | p.Arg33His | missense_variant | 3/4 | 2 | ENSP00000465705 | |||
IL11 | ENST00000587093.1 | c.98G>A | p.Arg33His | missense_variant | 3/3 | 2 | ENSP00000468663 |
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