rs3819025
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_002190.3(IL17A):c.27+18G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0736 in 1,612,372 control chromosomes in the GnomAD database, including 9,286 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_002190.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0889 AC: 13520AN: 152154Hom.: 1105 Cov.: 33
GnomAD3 exomes AF: 0.128 AC: 32108AN: 250576Hom.: 4518 AF XY: 0.117 AC XY: 15805AN XY: 135416
GnomAD4 exome AF: 0.0720 AC: 105093AN: 1460100Hom.: 8168 Cov.: 30 AF XY: 0.0730 AC XY: 53021AN XY: 726376
GnomAD4 genome AF: 0.0890 AC: 13558AN: 152272Hom.: 1118 Cov.: 33 AF XY: 0.0936 AC XY: 6968AN XY: 74448
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 59% of patients studied by a panel of primary immunodeficiencies. Number of patients: 56. Only high quality variants are reported. -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at