nsv3924558
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:delins
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:7,945
- Description:NM_000520.4(HEXA):c.-2564_253+5128delinsG AND Tay-Sachs disease
- Publication(s):ACOG Committee on Genetics et al. 2009, De Braekeleer et al. 1992, Gross et al. 2008, Hechtman et al. 1990, Kaback et al. 1999, Keats et al. 1987, Myerowitz et al. 1984, Myerowitz et al. 1985, Myerowitz et al. 1987
- ClinGen: CA252905
- ClinVar: RCV000004095.54
- ClinVar: VCV000003891.60
- GeneReviews: NBK1218
- MONDO: 0010100
- MedGen: C0039373
- OMIM: 272800
- OMIM: 606869.0003
- Orphanet: 845
- PubMed: 1577470
- PubMed: 18197057
- PubMed: 19888064
- PubMed: 20301397
- PubMed: 2220821
- PubMed: 2824459
- PubMed: 2933746
- PubMed: 2953646
- PubMed: 6236461
- dbVar: nssv1415009
- dbVar: nsv513781
- 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: 98 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 98 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3924558 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 72,370,592 | 72,378,536 |
| nsv3924558 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 72,662,933 | 72,670,877 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15120120 | delins | Multiple | Multiple | Hexosaminidase A Deficiency; TAY-SACHS DISEASE; TSD; Tay-Sachs disease; Tay-Sachs disease | Pathogenic/Likely pathogenic | ClinVar | RCV000004095.54, VCV000003891.60 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15120120 | Submitted genomic | NC_000015.10:g.723 70592_72378536deli nsC | GRCh38 (hg38) | NC_000015.10 | Chr15 | 72,370,592 | 72,378,536 |
| nssv15120120 | Submitted genomic | NC_000015.9:g.7266 2933_72670877delin sC | GRCh37 (hg19) | NC_000015.9 | Chr15 | 72,662,933 | 72,670,877 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15120120 | GRCh37: NC_000015.9:g.72662933_72670877delinsC, GRCh38: NC_000015.10:g.72370592_72378536delinsC | delins | see ClinVar for details | Hexosaminidase A Deficiency; TAY-SACHS DISEASE; TSD; Tay-Sachs disease; Tay-Sachs disease | Pathogenic/Likely pathogenic | ClinVar | RCV000004095.54, VCV000003891.60 |