rs35667974
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_022168.4(IFIH1):āc.2767A>Gā(p.Ile923Val) variant causes a missense change. The variant allele was found at a frequency of 0.0164 in 1,609,266 control chromosomes in the GnomAD database, including 279 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I923T) has been classified as Likely benign.
Frequency
Consequence
NM_022168.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IFIH1 | NM_022168.4 | c.2767A>G | p.Ile923Val | missense_variant | 14/16 | ENST00000649979.2 | |
IFIH1 | XM_047445407.1 | c.2050A>G | p.Ile684Val | missense_variant | 13/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IFIH1 | ENST00000649979.2 | c.2767A>G | p.Ile923Val | missense_variant | 14/16 | NM_022168.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0114 AC: 1738AN: 152224Hom.: 16 Cov.: 32
GnomAD3 exomes AF: 0.0113 AC: 2789AN: 247356Hom.: 37 AF XY: 0.0109 AC XY: 1450AN XY: 133634
GnomAD4 exome AF: 0.0169 AC: 24651AN: 1456924Hom.: 263 Cov.: 30 AF XY: 0.0163 AC XY: 11801AN XY: 724584
GnomAD4 genome AF: 0.0114 AC: 1739AN: 152342Hom.: 16 Cov.: 32 AF XY: 0.0108 AC XY: 801AN XY: 74496
ClinVar
Submissions by phenotype
not specified Benign:1
Benign, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Jan 20, 2017 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Apr 15, 2021 | This variant is associated with the following publications: (PMID: 20736039, 20668468, 19264985, 19324880, 27720759, 28501801, 28973304, 28658209) - |
Aicardi-Goutieres syndrome 7;C4225427:Singleton-Merten syndrome 1 Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
IFIH1-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Aug 18, 2022 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at