X-38352051-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The NM_001407092.1(OTC):c.-79-567G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_001407092.1 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OTC | NM_001407092.1 | c.-79-567G>A | intron_variant | Intron 2 of 11 | NP_001394021.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.701 AC: 77795AN: 110992Hom.: 19293 Cov.: 24 AF XY: 0.696 AC XY: 23213AN XY: 33358
GnomAD4 genome Data not reliable, filtered out with message: InbreedingCoeff AF: 0.701 AC: 77833AN: 111047Hom.: 19288 Cov.: 24 AF XY: 0.696 AC XY: 23259AN XY: 33423
ClinVar
Submissions by phenotype
not provided Benign:1
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. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at