chr11-17594181-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001292063.2(OTOG):c.3408+15C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.159 in 1,550,434 control chromosomes in the GnomAD database, including 20,195 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001292063.2 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OTOG | ENST00000399397.6 | c.3408+15C>T | intron_variant | Intron 28 of 55 | 5 | NM_001292063.2 | ENSP00000382329.2 | |||
OTOG | ENST00000399391.7 | c.3444+15C>T | intron_variant | Intron 27 of 54 | 5 | ENSP00000382323.2 | ||||
OTOG | ENST00000342528.2 | n.773+15C>T | intron_variant | Intron 5 of 21 | 2 |
Frequencies
GnomAD3 genomes AF: 0.142 AC: 21559AN: 152128Hom.: 1685 Cov.: 33
GnomAD3 exomes AF: 0.152 AC: 22707AN: 149136Hom.: 1912 AF XY: 0.157 AC XY: 12626AN XY: 80328
GnomAD4 exome AF: 0.161 AC: 224663AN: 1398188Hom.: 18511 Cov.: 33 AF XY: 0.162 AC XY: 112027AN XY: 689628
GnomAD4 genome AF: 0.142 AC: 21575AN: 152246Hom.: 1684 Cov.: 33 AF XY: 0.141 AC XY: 10520AN XY: 74438
ClinVar
Submissions by phenotype
not specified Benign:3
3444+15C>T in intron 27 of OTOG: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 21.5% (43/200) of Han Chinese chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/proje cts/SNP; dbSNP rs7936484). -
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not provided Benign:3
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at