ENST00000323060.4:c.454C>T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 0P and 3B. BP4_ModerateBP6
The ENST00000323060.4(OPA3):c.454C>T(p.Leu152Leu) variant causes a synonymous change. The variant allele was found at a frequency of 0.0000988 in 1,609,392 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
ENST00000323060.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152194Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000182 AC: 43AN: 236892Hom.: 0 AF XY: 0.000215 AC XY: 28AN XY: 130248
GnomAD4 exome AF: 0.000104 AC: 152AN: 1457198Hom.: 0 Cov.: 31 AF XY: 0.000110 AC XY: 80AN XY: 724876
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152194Hom.: 0 Cov.: 31 AF XY: 0.0000538 AC XY: 4AN XY: 74354
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
OPA3: BP4, BP7 -
Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at