rs1025689
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_018725.4(IL17RB):c.126C>A(p.Pro42=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000149 in 1,611,998 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.
Frequency
Consequence
NM_018725.4 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 |
---|---|---|---|---|---|---|---|
IL17RB | NM_018725.4 | c.126C>A | p.Pro42= | synonymous_variant | 3/11 | ENST00000288167.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL17RB | ENST00000288167.8 | c.126C>A | p.Pro42= | synonymous_variant | 3/11 | 1 | NM_018725.4 | P1 | |
IL17RB | ENST00000494338.1 | c.126C>A | p.Pro42= | synonymous_variant | 3/10 | 5 | |||
IL17RB | ENST00000475124.1 | n.131C>A | non_coding_transcript_exon_variant | 3/10 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000132 AC: 2AN: 151640Hom.: 0 Cov.: 29
GnomAD3 exomes AF: 0.00000800 AC: 2AN: 249936Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135116
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1460358Hom.: 0 Cov.: 37 AF XY: 0.0000165 AC XY: 12AN XY: 726420
GnomAD4 genome ? AF: 0.0000132 AC: 2AN: 151640Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 74012
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at