ENST00000465127.1:c.172-313865A>G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_StrongBP6_Moderate
The ENST00000465127.1(ENSG00000250349):c.172-313865A>G 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
ENST00000465127.1 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.-79-362A>G | intron_variant | Intron 2 of 11 | NP_001394021.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.705 AC: 77430AN: 109897Hom.: 19605 Cov.: 22 AF XY: 0.695 AC XY: 22374AN XY: 32173
GnomAD4 genome Data not reliable, filtered out with message: InbreedingCoeff AF: 0.705 AC: 77464AN: 109948Hom.: 19599 Cov.: 22 AF XY: 0.695 AC XY: 22417AN XY: 32234
ClinVar
Submissions by phenotype
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 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