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

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.712
Variant links:
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
IL11NM_000641.4 linkuse as main transcriptc.*1301C>T 3_prime_UTR_variant 5/5 ENST00000264563.7 NP_000632.1
IL11NM_001267718.2 linkuse as main transcriptc.*1301C>T 3_prime_UTR_variant 4/4 NP_001254647.1

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
IL11ENST00000264563.7 linkuse as main transcriptc.*1301C>T 3_prime_UTR_variant 5/51 NM_000641.4 ENSP00000264563 P1P20809-1

Frequencies

GnomAD3 genomes
AF:
0.745
AC:
113047
AN:
151826
Hom.:
42431
Cov.:
31
show subpopulations
Gnomad AFR
AF:
0.645
Gnomad AMI
AF:
0.695
Gnomad AMR
AF:
0.727
Gnomad ASJ
AF:
0.717
Gnomad EAS
AF:
0.885
Gnomad SAS
AF:
0.851
Gnomad FIN
AF:
0.772
Gnomad MID
AF:
0.722
Gnomad NFE
AF:
0.789
Gnomad OTH
AF:
0.727
GnomAD4 exome
AF:
0.800
AC:
8
AN:
10
Hom.:
3
Cov.:
0
AF XY:
0.667
AC XY:
4
AN XY:
6
show subpopulations
Gnomad4 FIN exome
AF:
0.833
Gnomad4 OTH exome
AF:
1.00
GnomAD4 genome
AF:
0.744
AC:
113104
AN:
151944
Hom.:
42448
Cov.:
31
AF XY:
0.746
AC XY:
55422
AN XY:
74254
show subpopulations
Gnomad4 AFR
AF:
0.645
Gnomad4 AMR
AF:
0.727
Gnomad4 ASJ
AF:
0.717
Gnomad4 EAS
AF:
0.885
Gnomad4 SAS
AF:
0.851
Gnomad4 FIN
AF:
0.772
Gnomad4 NFE
AF:
0.789
Gnomad4 OTH
AF:
0.721
Alfa
AF:
0.770
Hom.:
41313
Bravo
AF:
0.732

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-1.0
CADD
Benign
2.3
DANN
Benign
0.58

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs1126760; hg19: chr19-55876074; API