rs1168773
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000545837.1(IRAK3):āc.206A>Gā(p.Tyr69Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.014 in 1,535,268 control chromosomes in the GnomAD database, including 2,335 homozygotes. In-silico tool predicts a benign outcome for this variant. 8/12 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
ENST00000545837.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IRAK3 | NM_007199.3 | c.134-6759A>G | intron_variant | ENST00000261233.9 | |||
IRAK3 | NM_001142523.2 | c.133+7520A>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IRAK3 | ENST00000545837.1 | c.206A>G | p.Tyr69Cys | missense_variant | 2/2 | 1 | |||
IRAK3 | ENST00000261233.9 | c.134-6759A>G | intron_variant | 1 | NM_007199.3 | P1 | |||
IRAK3 | ENST00000457197.2 | c.133+7520A>G | intron_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0709 AC: 10782AN: 152120Hom.: 1243 Cov.: 32
GnomAD3 exomes AF: 0.0147 AC: 1967AN: 133466Hom.: 211 AF XY: 0.0115 AC XY: 838AN XY: 72690
GnomAD4 exome AF: 0.00771 AC: 10669AN: 1383030Hom.: 1091 Cov.: 31 AF XY: 0.00684 AC XY: 4671AN XY: 682422
GnomAD4 genome ? AF: 0.0709 AC: 10797AN: 152238Hom.: 1244 Cov.: 32 AF XY: 0.0679 AC XY: 5055AN XY: 74462
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at