rs1800872
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_153758.5(IL19):c.-149+1984T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.686 in 152,058 control chromosomes in the GnomAD database, including 36,716 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_153758.5 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: 0.686 AC: 104271AN: 151940Hom.: 36691 Cov.: 31
GnomAD4 genome AF: 0.686 AC: 104356AN: 152058Hom.: 36716 Cov.: 31 AF XY: 0.682 AC XY: 50730AN XY: 74346
ClinVar
Submissions by phenotype
Graft-versus-host disease, resistance to Benign:1
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not provided Benign:1
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Inflammatory bowel disease Benign:1
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Susceptibility to HIV infection Other:1
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Cholangiocarcinoma Other:1
No association with disease-free or overall survival after resection of intrahepatic Cholangiocarcinoma No association with disease-free or overall survival
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at