nsv5381510
- 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:4,321,266
- Description:NC_000005.9:g.(?_136633338)_(140998481_?)dup AND PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Publication(s):Reijnders et al. 2017
- ClinVar: RCV001339088.6
- ClinVar: VCV001020265.3
- 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: 11398 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 11390 SVs from 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381510 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 137,297,649 | 141,618,914 |
| nsv5381510 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 136,633,338 | 140,998,481 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867141 | duplication | 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 | Uncertain significance | ClinVar | RCV001339088.6, VCV001020265.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867141 | Remapped | Good | NC_000005.10:g.(?_ 137297649)_(141618 914_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 137,297,649 | 141,618,914 |
| nssv16867141 | Submitted genomic | NC_000005.9:g.(?_1 36633338)_(1409984 81_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 136,633,338 | 140,998,481 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867141 | GRCh37: NC_000005.9:g.(?_136633338)_(140998481_?)dup | duplication | germline | 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 | Uncertain significance | ClinVar | RCV001339088.6, VCV001020265.3 |