12-112987349-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000449768.2(OAS2):c.489C>A(p.Ser163Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000466 in 1,610,844 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/15 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000449768.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OAS2 | NM_002535.3 | c.448+41C>A | intron_variant | ENST00000392583.7 | |||
OAS2 | NM_001032731.2 | c.489C>A | p.Ser163Arg | missense_variant | 2/2 | ||
OAS2 | NM_016817.3 | c.448+41C>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OAS2 | ENST00000392583.7 | c.448+41C>A | intron_variant | 1 | NM_002535.3 | P2 | |||
ENST00000552784.1 | n.353+30050G>T | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152036Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000325 AC: 8AN: 245930Hom.: 0 AF XY: 0.0000374 AC XY: 5AN XY: 133566
GnomAD4 exome AF: 0.0000480 AC: 70AN: 1458808Hom.: 0 Cov.: 60 AF XY: 0.0000579 AC XY: 42AN XY: 725382
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152036Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74262
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at