rs397514608
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_001292063.2(OTOG):c.6523C>A(p.Arg2175=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000114 in 1,398,332 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.
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.6523C>A | p.Arg2175= | synonymous_variant | 39/56 | ENST00000399397.6 | |
OTOG | NM_001277269.2 | c.6559C>A | p.Arg2187= | synonymous_variant | 38/55 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OTOG | ENST00000399397.6 | c.6523C>A | p.Arg2175= | synonymous_variant | 39/56 | 5 | NM_001292063.2 | P2 | |
OTOG | ENST00000399391.7 | c.6559C>A | p.Arg2187= | synonymous_variant | 38/55 | 5 | A2 | ||
OTOG | ENST00000342528.2 | n.3861C>A | non_coding_transcript_exon_variant | 15/22 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome AF: 0.0000114 AC: 16AN: 1398332Hom.: 0 Cov.: 31 AF XY: 0.0000101 AC XY: 7AN XY: 689700
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at