nsv5673225
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:53
- Description:NM_025136.4(OPA3):c.206_258del (p.Lys69fs) AND multiple conditions
- Publication(s):Gunay-Aygun et al. 2006
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 75 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5673225 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 45,553,796 | 45,553,848 |
| nsv5673225 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 46,057,054 | 46,057,106 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17172073 | deletion | Multiple | Multiple | 3-@METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3; 3-Methylglutaconic aciduria type 3; 3-methylglutaconic aciduria type 3; Autosomal dominant optic atrophy and cataract; OPA3-Related 3-Methylglutaconic Aciduria; OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3; Optic atrophy and cataract, autosomal dominant | Uncertain significance | ClinVar | RCV001377236.5, VCV001066277.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17172073 | Submitted genomic | NC_000019.10:g.455 53796_45553848del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 45,553,796 | 45,553,848 |
| nssv17172073 | Submitted genomic | NC_000019.9:g.4605 7054_46057106del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 46,057,054 | 46,057,106 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17172073 | GRCh37: NC_000019.9:g.46057054_46057106del, GRCh38: NC_000019.10:g.45553796_45553848del | deletion | germline | 3-@METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3; 3-Methylglutaconic aciduria type 3; 3-methylglutaconic aciduria type 3; Autosomal dominant optic atrophy and cataract; OPA3-Related 3-Methylglutaconic Aciduria; OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3; Optic atrophy and cataract, autosomal dominant | Uncertain significance | ClinVar | RCV001377236.5, VCV001066277.5 |