rs28360476
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_003733.4(OASL):c.213G>T(p.Gly71Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00107 in 1,612,684 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_003733.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OASL | NM_003733.4 | c.213G>T | p.Gly71Gly | synonymous_variant | 2/6 | ENST00000257570.10 | NP_003724.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OASL | ENST00000257570.10 | c.213G>T | p.Gly71Gly | synonymous_variant | 2/6 | 1 | NM_003733.4 | ENSP00000257570.4 |
Frequencies
GnomAD3 genomes AF: 0.000854 AC: 130AN: 152162Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000955 AC: 239AN: 250308Hom.: 0 AF XY: 0.000968 AC XY: 131AN XY: 135400
GnomAD4 exome AF: 0.00109 AC: 1592AN: 1460404Hom.: 0 Cov.: 33 AF XY: 0.00107 AC XY: 779AN XY: 726446
GnomAD4 genome AF: 0.000854 AC: 130AN: 152280Hom.: 0 Cov.: 31 AF XY: 0.000725 AC XY: 54AN XY: 74456
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at