rs879576
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BA1
The NM_014339.7(IL17RA):c.1137G>A(p.Lys379Lys) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.119 in 1,613,960 control chromosomes in the GnomAD database, including 12,799 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_014339.7 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IL17RA | ENST00000319363.11 | c.1137G>A | p.Lys379Lys | synonymous_variant | Exon 13 of 13 | 1 | NM_014339.7 | ENSP00000320936.6 | ||
IL17RA | ENST00000612619.2 | c.1035G>A | p.Lys345Lys | synonymous_variant | Exon 12 of 12 | 5 | ENSP00000479970.1 |
Frequencies
GnomAD3 genomes AF: 0.146 AC: 22154AN: 152056Hom.: 1890 Cov.: 33
GnomAD3 exomes AF: 0.114 AC: 28544AN: 251174Hom.: 2027 AF XY: 0.115 AC XY: 15649AN XY: 135786
GnomAD4 exome AF: 0.116 AC: 169645AN: 1461784Hom.: 10907 Cov.: 54 AF XY: 0.117 AC XY: 84805AN XY: 727198
GnomAD4 genome AF: 0.146 AC: 22171AN: 152176Hom.: 1892 Cov.: 33 AF XY: 0.144 AC XY: 10679AN XY: 74394
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 26% of patients studied by a panel of primary immunodeficiencies. Number of patients: 25. Only high quality variants are reported. -
Familial Candidiasis, Recessive Benign:1
- -
Immunodeficiency 51 Benign:1
- -
not provided Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at