rs138009692
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000576.3(IL1B):c.630G>T(p.Lys210Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000131 in 1,526,938 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000576.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000866 AC: 1AN: 115422Hom.: 0 Cov.: 30
GnomAD4 exome AF: 7.08e-7 AC: 1AN: 1411516Hom.: 0 Cov.: 31 AF XY: 0.00000143 AC XY: 1AN XY: 701484
GnomAD4 genome AF: 0.00000866 AC: 1AN: 115422Hom.: 0 Cov.: 30 AF XY: 0.0000175 AC XY: 1AN XY: 57042
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at