nsv6290261
- 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:1,023,741
- Description:GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1 AND PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Publication(s):Reijnders et al. 2017
- ClinVar: RCV001801202.1
- ClinVar: VCV001330185.1
- GeneReviews: NBK426063
- MONDO: 0018580
- MedGen: C4015357
- OMIM: 600473.0001
- OMIM: 600473.0002
- OMIM: 600473.0003
- OMIM: 600473.0004
- OMIM: 600473.0005
- OMIM: 600473.0006
- OMIM: 600473.0007
- OMIM: 600473.0008
- OMIM: 600473.0009
- OMIM: 600473.0010
- OMIM: 616158
- Orphanet: 438216
- PubMed: 28448108
- 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: 3071 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 3070 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290261 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 140,114,132 | 141,137,872 |
| nsv6290261 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 139,493,717 | 140,517,454 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17955885 | copy number loss | Multiple | Multiple | MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31; Mental retardation, autosomal dominant 31; PURA related severe neonatal hypotonia seizures encephalopathy syndrome due to a point mutation; PURA-Related Neurodevelopmental Disorders; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001801202.1, VCV001330185.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955885 | Remapped | Perfect | NC_000005.10:g.(?_ 140114132)_(141137 872_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 140,114,132 | 141,137,872 |
| nssv17955885 | Submitted genomic | NC_000005.9:g.(?_1 39493717)_(1405174 54_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 139,493,717 | 140,517,454 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17955885 | GRCh37: NC_000005.9:g.(?_139493717)_(140517454_?)del | copy number loss | unknown | MENTAL RETARDATION, AUTOSOMAL DOMINANT 31; MRD31; Mental retardation, autosomal dominant 31; PURA related severe neonatal hypotonia seizures encephalopathy syndrome due to a point mutation; PURA-Related Neurodevelopmental Disorders; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001801202.1, VCV001330185.1 | 1 |