nsv4682479
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,918
- Description:NM_001103.4(ACTN2):c.698-10_1107+10del AND multiple conditions
- Publication(s):Ackerman et al. 2011, Authors/Task Force members et al. 2014, Cirino et al. 2008, Hershberger et al. 2007, Maron et al. 2003
- ClinVar: RCV001067176.1
- ClinVar: VCV000860800.2
- MONDO: 0012808
- MONDO: 0024573
- MeSH: D024741
- MedGen: C0949658
- MedGen: C2677338
- OMIM: 102573.0005
- OMIM: 102573.0007
- OMIM: 192600
- OMIM: 612158
- OMIM: PS192600
- Orphanet: 154
- PubMed: 14607462
- PubMed: 20301486
- PubMed: 20301725
- PubMed: 21810866
- PubMed: 25173338
- 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: 109 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4682479 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 236,735,625 | 236,739,542 |
| nsv4682479 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 236,898,925 | 236,902,842 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16212985 | deletion | Multiple | Multiple | CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CMD1AA; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1; Cardiomyopathy, Hypertrophic, Familial; Cardiomyopathy, familial hypertrophic; Dilated cardiomyopathy 1AA; Familial isolated dilated cardiomyopathy; Primary familial hypertrophic cardiomyopathy; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV001067176.1, VCV000860800.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv16212985 | Submitted genomic | NC_000001.11:g.236 735625_236739542de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 236,735,625 | 236,739,542 |
| nssv16212985 | Submitted genomic | NC_000001.10:g.236 898925_236902842de l | GRCh37 (hg19) | NC_000001.10 | Chr1 | 236,898,925 | 236,902,842 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16212985 | GRCh37: NC_000001.10:g.236898925_236902842del, GRCh38: NC_000001.11:g.236735625_236739542del | deletion | germline | CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CMD1AA; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1; Cardiomyopathy, Hypertrophic, Familial; Cardiomyopathy, familial hypertrophic; Dilated cardiomyopathy 1AA; Familial isolated dilated cardiomyopathy; Primary familial hypertrophic cardiomyopathy; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV001067176.1, VCV000860800.2 |