chr19-49662076-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 6P and 4B. PM1PP3_StrongBS2
The NM_001571.6(IRF3):c.854G>A(p.Arg285Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000223 in 1,613,704 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance,risk factor (no stars).
Frequency
Consequence
NM_001571.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152246Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000399 AC: 10AN: 250582Hom.: 0 AF XY: 0.0000443 AC XY: 6AN XY: 135514
GnomAD4 exome AF: 0.0000226 AC: 33AN: 1461458Hom.: 0 Cov.: 31 AF XY: 0.0000165 AC XY: 12AN XY: 726996
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152246Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74384
ClinVar
Submissions by phenotype
IRF3-related disorder Uncertain:1
The IRF3 c.854G>A variant is predicted to result in the amino acid substitution p.Arg285Gln. This variant has been reported in an individual with herpes simplex encephalitis, who inherited this variant from her unaffected father (Andersen et al 2015. PubMed ID: 26216125; Andersen et al. 2017. PubMed ID: 29217828). This variant is reported in 0.0078% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 Other:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at