NM_001378609.3:c.1441+10T>A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 2P and 16B. PM2BP4_StrongBP6_Very_StrongBS1
The NM_001378609.3(OTOGL):c.1441+10T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000849 in 1,599,000 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001378609.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OTOGL | NM_001378609.3 | c.1441+10T>A | intron_variant | Intron 15 of 58 | ENST00000547103.7 | NP_001365538.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OTOGL | ENST00000547103.7 | c.1441+10T>A | intron_variant | Intron 15 of 58 | 5 | NM_001378609.3 | ENSP00000447211.2 | |||
OTOGL | ENST00000646859.1 | c.1441+10T>A | intron_variant | Intron 20 of 62 | ENSP00000496036.1 | |||||
OTOGL | ENST00000643417.1 | n.2101+10T>A | intron_variant | Intron 18 of 22 |
Frequencies
GnomAD3 genomes AF: 0.000619 AC: 94AN: 151934Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000981 AC: 240AN: 244652Hom.: 0 AF XY: 0.000917 AC XY: 122AN XY: 132980
GnomAD4 exome AF: 0.000874 AC: 1264AN: 1446948Hom.: 0 Cov.: 29 AF XY: 0.000851 AC XY: 613AN XY: 720140
GnomAD4 genome AF: 0.000618 AC: 94AN: 152052Hom.: 0 Cov.: 32 AF XY: 0.000673 AC XY: 50AN XY: 74338
ClinVar
Submissions by phenotype
not specified Benign:1
c.1414+10T>A in intron 14 of OTOGL: This variant is not expected to have clinica l significance because it is not located within the splice consensus sequence. I t has been identified in 0.4% (131/34138) of Latino chromosomes by the Genome Ag gregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs367996419) . -
OTOGL-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at