1-206770888-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_153758.5(IL19):c.-339A>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.781 in 1,612,424 control chromosomes in the GnomAD database, including 500,305 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_153758.5 5_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.723 AC: 109793AN: 151870Hom.: 40839 Cov.: 30
GnomAD3 exomes AF: 0.718 AC: 180270AN: 251146Hom.: 67310 AF XY: 0.723 AC XY: 98240AN XY: 135794
GnomAD4 exome AF: 0.787 AC: 1148859AN: 1460436Hom.: 459443 Cov.: 38 AF XY: 0.784 AC XY: 569439AN XY: 726620
GnomAD4 genome AF: 0.723 AC: 109876AN: 151988Hom.: 40862 Cov.: 30 AF XY: 0.720 AC XY: 53453AN XY: 74290
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 93% of patients studied by a panel of primary immunodeficiencies. Number of patients: 89. Only high quality variants are reported. -
not provided Benign:1
- -
Inflammatory bowel disease Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at