rs76863988
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001571.6(IRF3):c.142C>G(p.Gln48Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/20 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
Genomes: not found (cov: 32)
Consequence
IRF3
NM_001571.6 missense
NM_001571.6 missense
Scores
2
16
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.0140
Genes affected
IRF3 (HGNC:6118): (interferon regulatory factor 3) This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. The protein plays an important role in the innate immune response against DNA and RNA viruses. Mutations in this gene are associated with Encephalopathy, acute, infection-induced, herpes-specific, 7. [provided by RefSeq, Sep 2020]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -2 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
BP4
?
Computational evidence support a benign effect (MetaRNN=0.050522864).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IRF3 | NM_001571.6 | c.142C>G | p.Gln48Glu | missense_variant | 2/8 | ENST00000377139.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IRF3 | ENST00000377139.8 | c.142C>G | p.Gln48Glu | missense_variant | 2/8 | 1 | NM_001571.6 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 genomes
?
Cov.:
32
GnomAD4 exome Cov.: 34
GnomAD4 exome
Cov.:
34
GnomAD4 genome ? Cov.: 32
GnomAD4 genome
?
Cov.:
32
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Uncertain
T
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
DEOGEN2
Benign
T;.;.;T;T;.;T;T;T;.;.;.
Eigen
Benign
Eigen_PC
Benign
FATHMM_MKL
Benign
N
M_CAP
Benign
D
MetaRNN
Benign
T;T;T;T;T;T;T;T;T;T;T;T
MetaSVM
Uncertain
T
MutationAssessor
Benign
N;.;N;N;N;N;.;.;.;.;N;.
MutationTaster
Benign
N;N;N;N
PrimateAI
Benign
T
PROVEAN
Benign
N;.;.;N;.;.;.;.;.;.;N;.
REVEL
Benign
Sift
Benign
T;.;.;T;.;.;.;.;.;.;T;.
Sift4G
Benign
T;T;T;T;T;T;.;T;.;.;T;.
Polyphen
B;.;.;B;B;.;.;.;.;.;.;.
Vest4
MutPred
Loss of MoRF binding (P = 0.0814);Loss of MoRF binding (P = 0.0814);Loss of MoRF binding (P = 0.0814);Loss of MoRF binding (P = 0.0814);Loss of MoRF binding (P = 0.0814);Loss of MoRF binding (P = 0.0814);Loss of MoRF binding (P = 0.0814);Loss of MoRF binding (P = 0.0814);Loss of MoRF binding (P = 0.0814);Loss of MoRF binding (P = 0.0814);Loss of MoRF binding (P = 0.0814);Loss of MoRF binding (P = 0.0814);
MVP
MPC
0.41
ClinPred
T
GERP RS
Varity_R
gMVP
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at