rs200945986
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 0P and 3B. BP4_ModerateBP6
The NM_022168.4(IFIH1):c.1793G>A(p.Arg598His) variant causes a missense change. The variant allele was found at a frequency of 0.000048 in 1,604,686 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R598C) has been classified as Uncertain significance.
Frequency
Consequence
NM_022168.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IFIH1 | NM_022168.4 | c.1793G>A | p.Arg598His | missense_variant | 10/16 | ENST00000649979.2 | |
IFIH1 | XM_047445407.1 | c.1076G>A | p.Arg359His | missense_variant | 9/15 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IFIH1 | ENST00000649979.2 | c.1793G>A | p.Arg598His | missense_variant | 10/16 | NM_022168.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000112 AC: 17AN: 152092Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000655 AC: 16AN: 244312Hom.: 0 AF XY: 0.0000531 AC XY: 7AN XY: 131844
GnomAD4 exome AF: 0.0000406 AC: 59AN: 1452476Hom.: 0 Cov.: 30 AF XY: 0.0000471 AC XY: 34AN XY: 722056
GnomAD4 genome ? AF: 0.000118 AC: 18AN: 152210Hom.: 0 Cov.: 32 AF XY: 0.0000806 AC XY: 6AN XY: 74400
ClinVar
Submissions by phenotype
Aicardi-Goutieres syndrome 7 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genomic Research Center, Shahid Beheshti University of Medical Sciences | Mar 05, 2018 | - - |
Singleton-Merten syndrome 1 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genomic Research Center, Shahid Beheshti University of Medical Sciences | Mar 05, 2018 | - - |
Aicardi-Goutieres syndrome 7;C4225427:Singleton-Merten syndrome 1 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 15, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at