rs9298814
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_021268.2(IFNA17):āc.551T>Gā(p.Ile184Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.206 in 1,473,920 control chromosomes in the GnomAD database, including 47,321 homozygotes. 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. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I184M) has been classified as Uncertain significance.
Frequency
Consequence
NM_021268.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IFNA17 | NM_021268.2 | c.551T>G | p.Ile184Arg | missense_variant | 1/1 | ENST00000413767.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IFNA17 | ENST00000413767.2 | c.551T>G | p.Ile184Arg | missense_variant | 1/1 | NM_021268.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.279 AC: 42376AN: 151646Hom.: 6522 Cov.: 32
GnomAD3 exomes AF: 0.116 AC: 26310AN: 226892Hom.: 5071 AF XY: 0.103 AC XY: 12728AN XY: 123150
GnomAD4 exome AF: 0.198 AC: 261478AN: 1322160Hom.: 40790 Cov.: 33 AF XY: 0.196 AC XY: 129582AN XY: 660462
GnomAD4 genome ? AF: 0.280 AC: 42426AN: 151760Hom.: 6531 Cov.: 32 AF XY: 0.279 AC XY: 20687AN XY: 74136
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at