nsv4685763
- 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:33,820
- Description:GRCh37/hg19 22q11.21(chr22:20029135-20062954) AND Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
- Publication(s):Lalani et al. 2018, Yuan et al. 2020
- ClinVar: RCV001195110.1
- ClinVar: VCV000915958.1
- GeneReviews: NBK476443
- MONDO: 0018820
- MedGen: C5567524
- OMIM: 616830.0001
- OMIM: 616830.0002
- OMIM: 616830.0003
- OMIM: 616830.0004
- OMIM: 616830.0005
- OMIM: 616830.0006
- OMIM: 616830.0007
- OMIM: 616830.0008
- OMIM: 616830.0009
- OMIM: 616830.0010
- OMIM: 616878
- PubMed: 29369572
- PubMed: 32576985
- 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: 457 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 436 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4685763 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 20,041,612 | 20,075,431 |
| nsv4685763 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 20,029,135 | 20,062,954 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16216544 | copy number loss | Multiple | Multiple | METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION; MECRCN; Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; See individual phenotypes in OMIM allelic variants; TANGO2-Related Metabolic Encephalopathy and Arrhythmias | Pathogenic | ClinVar | RCV001195110.1, VCV000915958.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16216544 | Remapped | Perfect | NC_000022.11:g.(?_ 20041612)_(2007543 1_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 20,041,612 | 20,075,431 |
| nssv16216544 | Submitted genomic | NC_000022.10:g.(?_ 20029135)_(2006295 4_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 20,029,135 | 20,062,954 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16216544 | GRCh37: NC_000022.10:g.(?_20029135)_(20062954_?)del | copy number loss | inherited | METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION; MECRCN; Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; See individual phenotypes in OMIM allelic variants; TANGO2-Related Metabolic Encephalopathy and Arrhythmias | Pathogenic | ClinVar | RCV001195110.1, VCV000915958.1 |