chr6-52189451-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_002190.3(IL17A):c.*159G>A variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.194 in 570,854 control chromosomes in the GnomAD database, including 12,375 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_002190.3 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.180 AC: 27345AN: 152024Hom.: 2920 Cov.: 32
GnomAD4 exome AF: 0.200 AC: 83689AN: 418712Hom.: 9457 Cov.: 4 AF XY: 0.199 AC XY: 43391AN XY: 217974
GnomAD4 genome AF: 0.180 AC: 27331AN: 152142Hom.: 2918 Cov.: 32 AF XY: 0.177 AC XY: 13142AN XY: 74382
ClinVar
Submissions by phenotype
not provided Benign:1
This variant is associated with the following publications: (PMID: 26765636) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at