rs1126760
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000641.4(IL11):c.*1301C>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.744 in 151,954 control chromosomes in the GnomAD database, including 42,451 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.
Frequency
Genomes: 𝑓 0.74 ( 42448 hom., cov: 31)
Exomes 𝑓: 0.80 ( 3 hom. )
Consequence
IL11
NM_000641.4 3_prime_UTR
NM_000641.4 3_prime_UTR
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.712
Genes affected
IL11 (HGNC:5966): (interleukin 11) The protein encoded by this gene is a member of the gp130 family of cytokines. These cytokines drive the assembly of multisubunit receptor complexes, all of which contain at least one molecule of the transmembrane signaling receptor IL6ST (gp130). This cytokine is shown to stimulate the T-cell-dependent development of immunoglobulin-producing B cells. It is also found to support the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-1.0).
BA1
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.863 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IL11 | NM_000641.4 | c.*1301C>T | 3_prime_UTR_variant | 5/5 | ENST00000264563.7 | NP_000632.1 | ||
IL11 | NM_001267718.2 | c.*1301C>T | 3_prime_UTR_variant | 4/4 | NP_001254647.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IL11 | ENST00000264563.7 | c.*1301C>T | 3_prime_UTR_variant | 5/5 | 1 | NM_000641.4 | ENSP00000264563 | P1 |
Frequencies
GnomAD3 genomes AF: 0.745 AC: 113047AN: 151826Hom.: 42431 Cov.: 31
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GnomAD4 exome AF: 0.800 AC: 8AN: 10Hom.: 3 Cov.: 0 AF XY: 0.667 AC XY: 4AN XY: 6
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GnomAD4 genome AF: 0.744 AC: 113104AN: 151944Hom.: 42448 Cov.: 31 AF XY: 0.746 AC XY: 55422AN XY: 74254
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ClinVar
Not reported inComputational scores
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Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at