X-38352331-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001407092.1(OTC):c.-79-287A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00345 in 111,999 control chromosomes in the GnomAD database, including 1 homozygotes. There are 94 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001407092.1 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OTC | NM_001407092.1 | c.-79-287A>G | intron_variant | Intron 2 of 11 | NP_001394021.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00345 AC: 386AN: 111947Hom.: 1 Cov.: 24 AF XY: 0.00276 AC XY: 94AN XY: 34095
GnomAD4 genome AF: 0.00345 AC: 386AN: 111999Hom.: 1 Cov.: 24 AF XY: 0.00275 AC XY: 94AN XY: 34157
ClinVar
Submissions by phenotype
Ornithine carbamoyltransferase deficiency Benign:3
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not specified 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. -
OTC-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
OTC: BS1 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at