11-17591521-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001292063.2(OTOG):c.2939G>A(p.Arg980Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000439 in 1,550,562 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. R980P) 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OTOG | NM_001292063.2 | c.2939G>A | p.Arg980Gln | missense_variant | 25/56 | ENST00000399397.6 | |
OTOG | NM_001277269.2 | c.2975G>A | p.Arg992Gln | missense_variant | 24/55 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OTOG | ENST00000399397.6 | c.2939G>A | p.Arg980Gln | missense_variant | 25/56 | 5 | NM_001292063.2 | P2 | |
OTOG | ENST00000399391.7 | c.2975G>A | p.Arg992Gln | missense_variant | 24/55 | 5 | A2 | ||
OTOG | ENST00000342528.2 | n.372-1672G>A | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152206Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000201 AC: 3AN: 149404Hom.: 0 AF XY: 0.0000124 AC XY: 1AN XY: 80432
GnomAD4 exome AF: 0.0000458 AC: 64AN: 1398356Hom.: 0 Cov.: 32 AF XY: 0.0000406 AC XY: 28AN XY: 689696
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152206Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74364
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at