rs115706543
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_017563.5(IL17RD):c.2108-128G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000187 in 536,182 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.
Frequency
Consequence
NM_017563.5 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IL17RD | ENST00000296318.12 | c.2108-128G>T | intron_variant | Intron 12 of 12 | 1 | NM_017563.5 | ENSP00000296318.7 | |||
IL17RD | ENST00000320057.9 | c.1676-128G>T | intron_variant | Intron 13 of 13 | 1 | ENSP00000322250.5 | ||||
IL17RD | ENST00000463523.5 | c.1676-128G>T | intron_variant | Intron 12 of 12 | 1 | ENSP00000417516.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000187 AC: 1AN: 536182Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 285512
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.