3-193648150-T-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_130837.3(OPA1):c.1935+16T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0788 in 1,569,684 control chromosomes in the GnomAD database, including 5,293 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_130837.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0776 AC: 11809AN: 152136Hom.: 512 Cov.: 32
GnomAD3 exomes AF: 0.0891 AC: 22354AN: 250910Hom.: 1099 AF XY: 0.0877 AC XY: 11897AN XY: 135612
GnomAD4 exome AF: 0.0789 AC: 111883AN: 1417428Hom.: 4779 Cov.: 24 AF XY: 0.0793 AC XY: 56113AN XY: 707986
GnomAD4 genome AF: 0.0776 AC: 11821AN: 152256Hom.: 514 Cov.: 32 AF XY: 0.0794 AC XY: 5909AN XY: 74448
ClinVar
Submissions by phenotype
not specified Benign:3
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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. -
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not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at