rs749120808
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_001292063.2(OTOG):c.8220C>A(p.Leu2740=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000143 in 1,398,050 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. Synonymous variant affecting the same amino acid position (i.e. L2740L) has been classified as Likely benign.
Frequency
Consequence
NM_001292063.2 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 | UniProt |
---|---|---|---|---|---|---|---|
OTOG | NM_001292063.2 | c.8220C>A | p.Leu2740= | synonymous_variant | 52/56 | ENST00000399397.6 | |
OTOG | NM_001277269.2 | c.8256C>A | p.Leu2752= | synonymous_variant | 51/55 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OTOG | ENST00000399397.6 | c.8220C>A | p.Leu2740= | synonymous_variant | 52/56 | 5 | NM_001292063.2 | P2 | |
OTOG | ENST00000399391.7 | c.8256C>A | p.Leu2752= | synonymous_variant | 51/55 | 5 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000143 AC: 2AN: 1398050Hom.: 0 Cov.: 32 AF XY: 0.00000145 AC XY: 1AN XY: 689572
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at