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

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.777
Variant links:
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
OPTNNM_001008212.2 linkc.-11-201_-11-200insGCGCAC intron_variant Intron 2 of 14 ENST00000378747.8 NP_001008213.1 Q96CV9-1
OPTNNM_001008211.1 linkc.-80-51_-80-50insGCGCAC intron_variant Intron 2 of 15 NP_001008212.1 Q96CV9-1
OPTNNM_001008213.1 linkc.-65-51_-65-50insGCGCAC intron_variant Intron 2 of 15 NP_001008214.1 Q96CV9-1
OPTNNM_021980.4 linkc.-11-201_-11-200insGCGCAC intron_variant Intron 1 of 13 NP_068815.2 Q96CV9-1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
OPTNENST00000378747.8 linkc.-11-202_-11-201insCGCGCA intron_variant Intron 2 of 14 1 NM_001008212.2 ENSP00000368021.3 Q96CV9-1

Frequencies

GnomAD3 genomes
AF:
0.0000463
AC:
7
AN:
151276
Hom.:
0
Cov.:
11
show subpopulations
Gnomad AFR
AF:
0.000170
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.00
Gnomad OTH
AF:
0.00
GnomAD4 exome
AF:
0.00000684
AC:
3
AN:
438480
Hom.:
0
AF XY:
0.00000427
AC XY:
1
AN XY:
234290
show subpopulations
Gnomad4 AFR exome
AF:
0.00
Gnomad4 AMR exome
AF:
0.00
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.0000364
Gnomad4 SAS exome
AF:
0.00
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.00000393
Gnomad4 OTH exome
AF:
0.0000409
GnomAD4 genome
AF:
0.0000463
AC:
7
AN:
151276
Hom.:
0
Cov.:
11
AF XY:
0.0000542
AC XY:
4
AN XY:
73836
show subpopulations
Gnomad4 AFR
AF:
0.000170
Gnomad4 AMR
AF:
0.00
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.00
Gnomad4 OTH
AF:
0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs111744244; hg19: chr10-13150910; API