nsv5674295
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:inversion
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:8,933
- Description:NM_001005242.3(PKP2):c.1217_1379-790inv AND Arrhythmogenic right ventricular dysplasia 9
- Publication(s):ACMG Board of Directors et al. 2014, Green et al. 2013, Kalia et al. 2016, McNally et al. 2005, Miller et al. 2021, Miller et al. 2022
- ClinVar: RCV001388239.4
- ClinVar: VCV001074817.4
- GeneReviews: NBK1131
- MONDO: 0012180
- MedGen: C1836906
- OMIM: 602861.0001
- OMIM: 602861.0002
- OMIM: 602861.0003
- OMIM: 602861.0004
- OMIM: 609040
- PubMed: 20301310
- PubMed: 23788249
- PubMed: 25356965
- PubMed: 27854360
- PubMed: 34012068
- PubMed: 35802134
- 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: 81 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5674295 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 32,841,995 | 32,850,927 |
| nsv5674295 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 32,994,929 | 33,003,861 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17173117 | inversion | Multiple | Multiple | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9; Arrhythmogenic Right Ventricular Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy, type 9; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001388239.4, VCV001074817.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17173117 | Submitted genomic | NC_000012.12:g.328 41995_32850927inv8 933 | GRCh38 (hg38) | NC_000012.12 | Chr12 | 32,841,995 | 32,850,927 |
| nssv17173117 | Submitted genomic | NC_000012.11:g.329 94929_33003861inv8 933 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 32,994,929 | 33,003,861 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17173117 | GRCh37: NC_000012.11:g.32994929_33003861inv8933, GRCh38: NC_000012.12:g.32841995_32850927inv8933 | inversion | germline | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; ARVD9; Arrhythmogenic Right Ventricular Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy, type 9; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001388239.4, VCV001074817.4 |