chr12-80219820-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PP3_Strong
The NM_001378609.3(OTOGL):c.242G>T(p.Cys81Phe) variant causes a missense change involving the alteration of a conserved nucleotide. In-silico tool predicts a pathogenic 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. C81Y) 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 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OTOGL | NM_001378609.3 | c.242G>T | p.Cys81Phe | missense_variant | 6/59 | ENST00000547103.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OTOGL | ENST00000547103.7 | c.242G>T | p.Cys81Phe | missense_variant | 6/59 | 5 | NM_001378609.3 | P1 | |
OTOGL | ENST00000646859.1 | c.242G>T | p.Cys81Phe | missense_variant | 11/63 | ||||
OTOGL | ENST00000643417.1 | n.902G>T | non_coding_transcript_exon_variant | 9/23 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 146614Hom.: 0 Cov.: 31 FAILED QC
GnomAD3 exomes AF: 0.00000461 AC: 1AN: 216742Hom.: 0 AF XY: 0.00000846 AC XY: 1AN XY: 118272
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000143 AC: 2AN: 1401634Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 698962
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000682 AC: 1AN: 146698Hom.: 0 Cov.: 31 AF XY: 0.0000140 AC XY: 1AN XY: 71324
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at