10-13108910-G-GCGCGCACA
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_001008212.2(OPTN):c.-11-201_-11-200insGCGCACAC variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0000066 ( 0 hom., cov: 11)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
OPTN
NM_001008212.2 intron
NM_001008212.2 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.777
Genes affected
OPTN (HGNC:17142): (optineurin) This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OPTN | NM_001008212.2 | c.-11-201_-11-200insGCGCACAC | intron_variant | Intron 2 of 14 | ENST00000378747.8 | NP_001008213.1 | ||
OPTN | NM_001008211.1 | c.-80-51_-80-50insGCGCACAC | intron_variant | Intron 2 of 15 | NP_001008212.1 | |||
OPTN | NM_001008213.1 | c.-65-51_-65-50insGCGCACAC | intron_variant | Intron 2 of 15 | NP_001008214.1 | |||
OPTN | NM_021980.4 | c.-11-201_-11-200insGCGCACAC | intron_variant | Intron 1 of 13 | NP_068815.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000661 AC: 1AN: 151276Hom.: 0 Cov.: 11
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GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 438488Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 234294
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GnomAD4 genome AF: 0.00000661 AC: 1AN: 151276Hom.: 0 Cov.: 11 AF XY: 0.00 AC XY: 0AN XY: 73836
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ClinVar
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at