rs3093408
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_181078.3(IL21R):c.1449C>A(p.Ala483=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,461,182 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A483A) has been classified as Likely benign.
Frequency
Consequence
NM_181078.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IL21R | NM_181078.3 | c.1449C>A | p.Ala483= | synonymous_variant | 9/9 | ENST00000337929.8 | |
IL21R-AS1 | NR_037158.1 | n.1169G>T | non_coding_transcript_exon_variant | 3/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL21R | ENST00000337929.8 | c.1449C>A | p.Ala483= | synonymous_variant | 9/9 | 1 | NM_181078.3 | P1 | |
IL21R | ENST00000395754.4 | c.1449C>A | p.Ala483= | synonymous_variant | 9/9 | 1 | P1 | ||
IL21R-AS1 | ENST00000563191.1 | n.1169G>T | non_coding_transcript_exon_variant | 3/3 | 2 | ||||
IL21R | ENST00000564089.5 | c.1449C>A | p.Ala483= | synonymous_variant | 10/10 | 5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461182Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 726940
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at