chr19-55366015-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000641.4(IL11):c.592C>T(p.Arg198Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000692 in 1,603,312 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R198Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_000641.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IL11 | NM_000641.4 | c.592C>T | p.Arg198Trp | missense_variant | 5/5 | ENST00000264563.7 | |
IL11 | NM_001267718.2 | c.355C>T | p.Arg119Trp | missense_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL11 | ENST00000264563.7 | c.592C>T | p.Arg198Trp | missense_variant | 5/5 | 1 | NM_000641.4 | P1 | |
IL11 | ENST00000585513.1 | c.592C>T | p.Arg198Trp | missense_variant | 5/5 | 1 | P1 | ||
IL11 | ENST00000590625.5 | c.355C>T | p.Arg119Trp | missense_variant | 4/4 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000921 AC: 14AN: 152072Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000119 AC: 27AN: 226190Hom.: 0 AF XY: 0.0000976 AC XY: 12AN XY: 123010
GnomAD4 exome AF: 0.0000668 AC: 97AN: 1451240Hom.: 1 Cov.: 32 AF XY: 0.0000666 AC XY: 48AN XY: 720868
GnomAD4 genome AF: 0.0000921 AC: 14AN: 152072Hom.: 0 Cov.: 31 AF XY: 0.0000942 AC XY: 7AN XY: 74278
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 17, 2022 | The c.592C>T (p.R198W) alteration is located in exon 5 (coding exon 5) of the IL11 gene. This alteration results from a C to T substitution at nucleotide position 592, causing the arginine (R) at amino acid position 198 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at