nsv5381577
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:4,003
- Description:NC_000002.11:g.(?_26414119)_(26418121_?)dup AND multiple conditions
- Publication(s):Prasun et al. 2022
- ClinVar: RCV001294846.2
- ClinVar: VCV000998925.2
- GeneReviews: NBK583531
- MONDO: 0012172
- MONDO: 0012173
- MedGen: C1969443
- MedGen: C3711645
- OMIM: 600890.0001
- OMIM: 600890.0003
- OMIM: 600890.0004
- OMIM: 600890.0005
- OMIM: 600890.0011
- OMIM: 600890.0012
- OMIM: 609015
- OMIM: 609016
- Orphanet: 5
- Orphanet: 746
- PubMed: 36063482
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 90 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 90 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381577 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 26,191,250 | 26,195,252 |
| nsv5381577 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 26,414,119 | 26,418,121 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16865916 | duplication | Multiple | Multiple | LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency; Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD; Mitochondrial trifunctional protein deficiency; Mitochondrial trifunctional protein deficiency; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV001294846.2, VCV000998925.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16865916 | Remapped | Perfect | NC_000002.12:g.(?_ 26191250)_(2619525 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 26,191,250 | 26,195,252 |
| nssv16865916 | Submitted genomic | NC_000002.11:g.(?_ 26414119)_(2641812 1_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 26,414,119 | 26,418,121 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16865916 | GRCh37: NC_000002.11:g.(?_26414119)_(26418121_?)dup | duplication | germline | LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency; Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MTPD; Mitochondrial trifunctional protein deficiency; Mitochondrial trifunctional protein deficiency; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV001294846.2, VCV000998925.2 |