10-13108910-G-GCGCGCA
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001008212.2(OPTN):c.-11-201_-11-200insGCGCAC variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000017 in 589,756 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000046 ( 0 hom., cov: 11)
Exomes 𝑓: 0.0000068 ( 0 hom. )
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 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OPTN | NM_001008212.2 | c.-11-201_-11-200insGCGCAC | intron_variant | Intron 2 of 14 | ENST00000378747.8 | NP_001008213.1 | ||
OPTN | NM_001008211.1 | c.-80-51_-80-50insGCGCAC | intron_variant | Intron 2 of 15 | NP_001008212.1 | |||
OPTN | NM_001008213.1 | c.-65-51_-65-50insGCGCAC | intron_variant | Intron 2 of 15 | NP_001008214.1 | |||
OPTN | NM_021980.4 | c.-11-201_-11-200insGCGCAC | intron_variant | Intron 1 of 13 | NP_068815.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000463 AC: 7AN: 151276Hom.: 0 Cov.: 11
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GnomAD4 exome AF: 0.00000684 AC: 3AN: 438480Hom.: 0 AF XY: 0.00000427 AC XY: 1AN XY: 234290
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GnomAD4 genome AF: 0.0000463 AC: 7AN: 151276Hom.: 0 Cov.: 11 AF XY: 0.0000542 AC XY: 4AN XY: 73836
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at