rs756332306
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014339.7(IL17RA):āc.2177C>Gā(p.Ser726Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,460,594 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S726L) has been classified as Uncertain significance.
Frequency
Consequence
NM_014339.7 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 |
---|---|---|---|---|---|---|---|
IL17RA | NM_014339.7 | c.2177C>G | p.Ser726Trp | missense_variant | 13/13 | ENST00000319363.11 | |
IL17RA | NM_001289905.2 | c.2075C>G | p.Ser692Trp | missense_variant | 12/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IL17RA | ENST00000319363.11 | c.2177C>G | p.Ser726Trp | missense_variant | 13/13 | 1 | NM_014339.7 | P2 | |
IL17RA | ENST00000612619.2 | c.2075C>G | p.Ser692Trp | missense_variant | 12/12 | 5 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD3 exomes AF: 0.00000808 AC: 2AN: 247554Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 134786
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460594Hom.: 0 Cov.: 35 AF XY: 0.00000275 AC XY: 2AN XY: 726580
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at