rs566689671
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001292063.2(OTOG):c.4147C>G(p.Arg1383Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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. R1383C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001292063.2 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 |
---|---|---|---|---|---|---|---|
OTOG | NM_001292063.2 | c.4147C>G | p.Arg1383Gly | missense_variant | 33/56 | ENST00000399397.6 | |
OTOG | NM_001277269.2 | c.4183C>G | p.Arg1395Gly | missense_variant | 32/55 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OTOG | ENST00000399397.6 | c.4147C>G | p.Arg1383Gly | missense_variant | 33/56 | 5 | NM_001292063.2 | P2 | |
OTOG | ENST00000399391.7 | c.4183C>G | p.Arg1395Gly | missense_variant | 32/55 | 5 | A2 | ||
OTOG | ENST00000342528.2 | n.1485C>G | non_coding_transcript_exon_variant | 9/22 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD4 exome Cov.: 35
GnomAD4 genome ? Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at