nsv6634316
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:32,374
- Description:
See descriptions for individual calls in download files - Publication(s):ACMG Board of Directors et al. 2014, Barana et al. 2004, Church et al. 2001, Giardiello et al. 2014, Goggins et al. 2020, Green et al. 2013, Hampel et al. 2014, Hegde et al. 2013, Kalia et al. 2016, Kohlmann et al. 2004, Lu et al. 2014, Menko et al. 2013, Miller et al. 2021, Miller et al. 2022, Mork et al. 2015, No authors et al. 2020, No authors et al. 2021, No authors et al. 2021, No authors et al. 2021, Ponti et al. 2005, Robson et al. 2010, Robson et al. 2015, Seppälä et al. 2021, Stella et al. 2007, Stoffel et al. 2014, Syngal et al. 2015, Trepanier et al. 2004, Vasen et al. 2013, Weissman et al. 2011, van der Klift et al. 2005
- ClinVar: RCV000001845.2
- ClinVar: RCV000023766.2
- ClinVar: VCV000001774.1
- GeneReviews: NBK1211
- MONDO: 0007356
- MONDO: 0008018
- MedGen: C1321489
- MedGen: C2936783
- OMIM: 120435
- OMIM: 158320
- OMIM: 609309.0023
- Orphanet: 144
- Orphanet: 587
- PubMed: 11598466
- PubMed: 14994245
- PubMed: 15604628
- PubMed: 15662714
- PubMed: 15942939
- PubMed: 17250661
- PubMed: 20065170
- PubMed: 20301390
- PubMed: 22167527
- PubMed: 23408351
- PubMed: 23535968
- PubMed: 23788249
- PubMed: 24310308
- PubMed: 24493721
- PubMed: 25070057
- PubMed: 25356965
- PubMed: 25394175
- PubMed: 25452455
- PubMed: 25645574
- PubMed: 25711197
- PubMed: 26324357
- PubMed: 26389210
- PubMed: 26389258
- PubMed: 26389333
- PubMed: 26389505
- PubMed: 27854360
- PubMed: 31672839
- PubMed: 34012068
- PubMed: 34043773
- 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: 217 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 217 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634316 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 47,391,348 | 47,423,721 |
| nsv6634316 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 47,618,487 | 47,650,860 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18326299 | deletion | Multiple | Multiple | Lynch Syndrome; MUIR-TORRE SYNDROME; MRTES; Muir-Torre syndrome; Muir-Torré syndrome | Pathogenic | ClinVar | RCV000001845.2, VCV000001774.1 |
| nssv18326397 | deletion | Multiple | Multiple | LYNCH SYNDROME I; Lynch Syndrome; Lynch syndrome; Lynch syndrome I | Pathogenic | ClinVar | RCV000023766.2, VCV000001774.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18326299 | Remapped | Perfect | NC_000002.12:g.473 91348_47423721del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 47,391,348 | 47,423,721 |
| nssv18326397 | Remapped | Perfect | NC_000002.12:g.473 91348_47423721del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 47,391,348 | 47,423,721 |
| nssv18326299 | Submitted genomic | NC_000002.11:g.476 18487_47650860del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 47,618,487 | 47,650,860 | ||
| nssv18326397 | Submitted genomic | NC_000002.11:g.476 18487_47650860del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 47,618,487 | 47,650,860 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18326299 | GRCh37: NC_000002.11:g.47618487_47650860del | deletion | germline | Lynch Syndrome; MUIR-TORRE SYNDROME; MRTES; Muir-Torre syndrome; Muir-Torré syndrome | Pathogenic | ClinVar | RCV000001845.2, VCV000001774.1 |
| nssv18326397 | GRCh37: NC_000002.11:g.47618487_47650860del | deletion | germline | LYNCH SYNDROME I; Lynch Syndrome; Lynch syndrome; Lynch syndrome I | Pathogenic | ClinVar | RCV000023766.2, VCV000001774.1 |