rs773293745
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_002535.3(OAS2):c.291C>A(p.Ile97Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000105 in 1,614,056 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002535.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OAS2 | NM_002535.3 | c.291C>A | p.Ile97Ile | synonymous_variant | Exon 2 of 10 | ENST00000392583.7 | NP_002526.2 | |
OAS2 | NM_016817.3 | c.291C>A | p.Ile97Ile | synonymous_variant | Exon 2 of 11 | NP_058197.2 | ||
OAS2 | NM_001032731.2 | c.291C>A | p.Ile97Ile | synonymous_variant | Exon 2 of 2 | NP_001027903.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152168Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251424Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135872
GnomAD4 exome AF: 0.0000109 AC: 16AN: 1461888Hom.: 0 Cov.: 36 AF XY: 0.0000151 AC XY: 11AN XY: 727246
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152168Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74338
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at