rs1727
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001547.5(IFIT2):c.1056C>A(p.Asp352Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.764 in 1,613,674 control chromosomes in the GnomAD database, including 475,430 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.1056C>A | p.Asp352Glu | missense_variant | 2/2 | ENST00000371826.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
IFIT2 | ENST00000371826.4 | c.1056C>A | p.Asp352Glu | missense_variant | 2/2 | 1 | NM_001547.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.824 AC: 125231AN: 152004Hom.: 52295 Cov.: 30
GnomAD3 exomes AF: 0.795 AC: 198067AN: 249018Hom.: 79705 AF XY: 0.796 AC XY: 107469AN XY: 135076
GnomAD4 exome AF: 0.758 AC: 1108149AN: 1461552Hom.: 423086 Cov.: 49 AF XY: 0.761 AC XY: 553167AN XY: 727102
GnomAD4 genome ? AF: 0.824 AC: 125330AN: 152122Hom.: 52344 Cov.: 30 AF XY: 0.828 AC XY: 61565AN XY: 74352
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at