rs191608225
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001378609.3(OTOGL):c.475C>G(p.Arg159Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000815 in 1,595,744 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R159W) has been classified as Uncertain significance.
Frequency
Consequence
NM_001378609.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OTOGL | NM_001378609.3 | c.475C>G | p.Arg159Gly | missense_variant | 7/59 | ENST00000547103.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OTOGL | ENST00000547103.7 | c.475C>G | p.Arg159Gly | missense_variant | 7/59 | 5 | NM_001378609.3 | P1 | |
OTOGL | ENST00000646859.1 | c.475C>G | p.Arg159Gly | missense_variant | 12/63 | ||||
OTOGL | ENST00000643417.1 | n.1135C>G | non_coding_transcript_exon_variant | 10/23 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 152048Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000428 AC: 1AN: 233556Hom.: 0 AF XY: 0.00000783 AC XY: 1AN XY: 127646
GnomAD4 exome AF: 0.00000831 AC: 12AN: 1443696Hom.: 0 Cov.: 30 AF XY: 0.0000125 AC XY: 9AN XY: 718730
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 152048Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74230
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at