rs17468739
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001547.5(IFIT2):āc.236A>Cā(p.Glu79Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.143 in 1,614,066 control chromosomes in the GnomAD database, including 18,962 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.
Frequency
Consequence
NM_001547.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
IFIT2 | NM_001547.5 | c.236A>C | p.Glu79Ala | missense_variant | 2/2 | ENST00000371826.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IFIT2 | ENST00000371826.4 | c.236A>C | p.Glu79Ala | missense_variant | 2/2 | 1 | NM_001547.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.109 AC: 16597AN: 152154Hom.: 1291 Cov.: 32
GnomAD3 exomes AF: 0.112 AC: 28018AN: 250506Hom.: 2184 AF XY: 0.113 AC XY: 15270AN XY: 135576
GnomAD4 exome AF: 0.147 AC: 214704AN: 1461794Hom.: 17672 Cov.: 34 AF XY: 0.144 AC XY: 104884AN XY: 727204
GnomAD4 genome ? AF: 0.109 AC: 16587AN: 152272Hom.: 1290 Cov.: 32 AF XY: 0.103 AC XY: 7654AN XY: 74458
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at