1-206866509-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_018724.4(IL20):c.251G>A(p.Arg84His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000719 in 1,614,012 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018724.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IL20 | NM_018724.4 | c.251G>A | p.Arg84His | missense_variant | 4/6 | ENST00000367098.6 | |
IL20 | NM_001385166.1 | c.251G>A | p.Arg84His | missense_variant | 5/7 | ||
IL20 | NM_001385167.1 | c.251G>A | p.Arg84His | missense_variant | 6/8 | ||
IL20 | NM_001385165.1 | c.251G>A | p.Arg84His | missense_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL20 | ENST00000367098.6 | c.251G>A | p.Arg84His | missense_variant | 4/6 | 1 | NM_018724.4 | P1 | |
IL20 | ENST00000367096.7 | c.251G>A | p.Arg84His | missense_variant | 3/5 | 1 | P1 | ||
IL20 | ENST00000391930.3 | c.251G>A | p.Arg84His | missense_variant | 3/4 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.000105 AC: 16AN: 152052Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000123 AC: 31AN: 251124Hom.: 0 AF XY: 0.000169 AC XY: 23AN XY: 135696
GnomAD4 exome AF: 0.0000684 AC: 100AN: 1461842Hom.: 1 Cov.: 32 AF XY: 0.000100 AC XY: 73AN XY: 727222
GnomAD4 genome ? AF: 0.000105 AC: 16AN: 152170Hom.: 0 Cov.: 32 AF XY: 0.000161 AC XY: 12AN XY: 74398
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 13, 2021 | The c.251G>A (p.R84H) alteration is located in exon 3 (coding exon 3) of the IL20 gene. This alteration results from a G to A substitution at nucleotide position 251, causing the arginine (R) at amino acid position 84 to be replaced by a histidine (H). 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