11-17640923-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001292063.2(OTOG):c.8022G>T(p.Pro2674=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000201 in 1,395,950 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. P2674P) has been classified as Likely benign.
Frequency
Consequence
NM_001292063.2 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OTOG | NM_001292063.2 | c.8022G>T | p.Pro2674= | synonymous_variant | 51/56 | ENST00000399397.6 | |
OTOG | NM_001277269.2 | c.8058G>T | p.Pro2686= | synonymous_variant | 50/55 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OTOG | ENST00000399397.6 | c.8022G>T | p.Pro2674= | synonymous_variant | 51/56 | 5 | NM_001292063.2 | P2 | |
OTOG | ENST00000399391.7 | c.8058G>T | p.Pro2686= | synonymous_variant | 50/55 | 5 | A2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.0000201 AC: 28AN: 1395950Hom.: 0 Cov.: 34 AF XY: 0.0000247 AC XY: 17AN XY: 688590
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at