nsv1398079
- 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:57,196
- Description:NM_000138.4(FBN1):c.(?_4473)_(8280_?)del AND Marfan syndrome
- Publication(s):ACMG Board of Directors et al. 2014, Ades et al. 2006, Boodhwani et al. 2014, Dietz et al. 2001, Erbel et al. 2014, Green et al. 2013, Kalia et al. 2016, Loeys et al. 2010, Maron et al. 2004, Miller et al. 2021, Miller et al. 2022, Pyeritz et al. 2012, Tinkle et al. 2013, Zentner et al. 2017
- ClinVar: RCV000150692.4
- ClinVar: VCV000163457.4
- GeneReviews: NBK1335
- MONDO: 0007947
- MedGen: C0024796
- OMIM: 154700
- Orphanet: 284963
- Orphanet: 558
- PubMed: 15184297
- PubMed: 17188935
- PubMed: 20301510
- PubMed: 20591885
- PubMed: 22237449
- PubMed: 23788249
- PubMed: 24081994
- PubMed: 24882528
- PubMed: 25173340
- PubMed: 25356965
- PubMed: 27854360
- PubMed: 28161018
- 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: 301 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 301 SVs from 46 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv1398079 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 48,411,326 | 48,468,521 |
| nsv1398079 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 48,703,523 | 48,760,718 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv8639430 | deletion | Multiple | Multiple | MARFAN SYNDROME; MFS; Marfan Syndrome; Marfan syndrome; Marfan syndrome; Marfan syndrome type 1 | Pathogenic | ClinVar | RCV000150692.4, VCV000163457.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv8639430 | Submitted genomic | NC_000015.10:g.(?_ 48411326)_(4846852 1_?)del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 48,411,326 | 48,468,521 |
| nssv8639430 | Submitted genomic | NC_000015.9:g.(?_4 8703523)_(48760718 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 48,703,523 | 48,760,718 |
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 |
|---|---|---|---|---|---|---|---|
| nssv8639430 | GRCh37: NC_000015.9:g.(?_48703523)_(48760718_?)del, GRCh38: NC_000015.10:g.(?_48411326)_(48468521_?)del | deletion | germline | MARFAN SYNDROME; MFS; Marfan Syndrome; Marfan syndrome; Marfan syndrome; Marfan syndrome type 1 | Pathogenic | ClinVar | RCV000150692.4, VCV000163457.4 |