nsv1398330
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,527
- Description:
See descriptions for individual calls in download files - Publication(s):ACMG Board of Directors et al. 2014, Bapat et al. 1996, Church et al. 2001, Giardiello et al. 2014, Goggins et al. 2020, Goldberg et al. 2019, Green et al. 1994, Green et al. 2013, Hampel et al. 2014, Hegde et al. 2013, Kalia et al. 2016, Kohlmann et al. 2004, Lu et al. 2014, Lynch et al. 1985, 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, Paraf et al. 1995, Ponti et al. 2005, Robson et al. 2010, Robson et al. 2015, Seppälä et al. 2021, Stoffel et al. 2014, Syngal et al. 2015, Trepanier et al. 2004, Vasen et al. 2013, Weissman et al. 2011
- ClinGen: CA330647
- ClinVar: RCV000075089.3
- ClinVar: RCV001804810.2
- ClinVar: RCV002468564.1
- ClinVar: VCV000089620.5
- GeneReviews: NBK1211
- MONDO: 0005835
- MONDO: 0007356
- MONDO: 0008018
- MedGen: C1321489
- MedGen: C2936783
- MedGen: C4552100
- OMIM: 120435
- OMIM: 120436.0006
- OMIM: 158320
- Orphanet: 144
- Orphanet: 587
- PubMed: 11598466
- PubMed: 15604628
- PubMed: 15662714
- 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: 31302137
- PubMed: 31672839
- PubMed: 34012068
- PubMed: 34043773
- PubMed: 35802134
- PubMed: 4063166
- PubMed: 7705822
- PubMed: 8198129
- PubMed: 8751876
- 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: 59 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 59 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv1398330 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 37,023,308 | 37,026,834 |
| nsv1398330 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 37,064,799 | 37,068,325 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17956029 | deletion | Multiple | Multiple | LYNCH SYNDROME I; Lynch Syndrome; Lynch syndrome; Lynch syndrome I | not provided | ClinVar | RCV001804810.2, VCV000089620.5 |
| nssv18330712 | deletion | Multiple | Multiple | Lynch Syndrome; MUIR-TORRE SYNDROME; MRTES; Muir-Torre syndrome; Muir-Torré syndrome | Pathogenic | ClinVar | RCV002468564.1, VCV000089620.5 |
| nssv8639681 | deletion | Multiple | Multiple | Lynch Syndrome; Lynch syndrome | Pathogenic | ClinVar | RCV000075089.3, VCV000089620.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17956029 | Submitted genomic | NC_000003.12:g.370 23308_37026834del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 37,023,308 | 37,026,834 |
| nssv18330712 | Submitted genomic | NC_000003.12:g.370 23308_37026834del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 37,023,308 | 37,026,834 |
| nssv8639681 | Submitted genomic | NC_000003.12:g.370 23308_37026834del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 37,023,308 | 37,026,834 |
| nssv17956029 | Submitted genomic | NC_000003.11:g.370 64799_37068325del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 37,064,799 | 37,068,325 |
| nssv18330712 | Submitted genomic | NC_000003.11:g.370 64799_37068325del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 37,064,799 | 37,068,325 |
| nssv8639681 | Submitted genomic | NC_000003.11:g.370 64799_37068325del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 37,064,799 | 37,068,325 |
No validation data were submitted for this variant
Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17956029 | GRCh37: NC_000003.11:g.37064799_37068325del, GRCh38: NC_000003.12:g.37023308_37026834del | deletion | germline | LYNCH SYNDROME I; Lynch Syndrome; Lynch syndrome; Lynch syndrome I | not provided | ClinVar | RCV001804810.2, VCV000089620.5 |
| nssv18330712 | GRCh37: NC_000003.11:g.37064799_37068325del, GRCh38: NC_000003.12:g.37023308_37026834del | deletion | germline | Lynch Syndrome; MUIR-TORRE SYNDROME; MRTES; Muir-Torre syndrome; Muir-Torré syndrome | Pathogenic | ClinVar | RCV002468564.1, VCV000089620.5 |
| nssv8639681 | GRCh37: NC_000003.11:g.37064799_37068325del, GRCh38: NC_000003.12:g.37023308_37026834del | deletion | germline | Lynch Syndrome; Lynch syndrome | Pathogenic | ClinVar | RCV000075089.3, VCV000089620.5 |