10-23439541-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_ModerateBP6BP7BA1
The NM_001145373.3(OTUD1):c.84C>T(p.Ala28Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00845 in 1,380,678 control chromosomes in the GnomAD database, including 99 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_001145373.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00863 AC: 1304AN: 151026Hom.: 11 Cov.: 32
GnomAD3 exomes AF: 0.00957 AC: 471AN: 49220Hom.: 11 AF XY: 0.00899 AC XY: 262AN XY: 29150
GnomAD4 exome AF: 0.00843 AC: 10360AN: 1229542Hom.: 88 Cov.: 31 AF XY: 0.00851 AC XY: 5148AN XY: 605038
GnomAD4 genome AF: 0.00862 AC: 1303AN: 151136Hom.: 11 Cov.: 32 AF XY: 0.00842 AC XY: 622AN XY: 73854
ClinVar
Submissions by phenotype
OTUD1-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at