nsv6290199
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,538
- Description:
See descriptions for individual calls in download files - Publication(s):ACMG Board of Directors et al. 2014, 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, Moisio et al. 1996, Mork et al. 2015, No authors et al. 2020, No authors et al. 2021, No authors et al. 2021, Nyström-Lahti et al. 1995, Robson et al. 2010, Robson et al. 2015, Seppälä et al. 2021, Stoffel et al. 2014, Syngal et al. 2015, Vasen et al. 2013, Weissman et al. 2011
- ClinVar: RCV001806462.2
- ClinVar: RCV002287900.2
- ClinVar: VCV001332889.4
- GeneReviews: NBK1211
- MONDO: 0007356
- MONDO: 0012249
- MedGen: C1333991
- MedGen: C2936783
- OMIM: 120435
- OMIM: 120436.0004
- OMIM: 609310
- Orphanet: 144
- PubMed: 11598466
- 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: 26389505
- PubMed: 27854360
- PubMed: 31672839
- PubMed: 34012068
- PubMed: 34043773
- PubMed: 35802134
- PubMed: 7584997
- PubMed: 8940269
- 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: 70 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 70 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 |
---|---|---|---|---|---|---|---|
nsv6290199 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 37,044,575 | 37,048,112 |
nsv6290199 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 37,086,066 | 37,089,603 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17956036 | deletion | Multiple | Multiple | LYNCH SYNDROME I; Lynch Syndrome; Lynch syndrome; Lynch syndrome I | not provided | ClinVar | RCV001806462.2, VCV001332889.4 |
nssv18326452 | deletion | Multiple | Multiple | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2; Lynch Syndrome; Lynch syndrome; Lynch syndrome II | Pathogenic | ClinVar | RCV002287900.2, VCV001332889.4 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nssv17956036 | Submitted genomic | NC_000003.12:g.370 44575_37048112del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 37,044,575 | 37,048,112 |
nssv18326452 | Submitted genomic | NC_000003.12:g.370 44575_37048112del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 37,044,575 | 37,048,112 |
nssv17956036 | Submitted genomic | NC_000003.11:g.370 86066_37089603del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 37,086,066 | 37,089,603 |
nssv18326452 | Submitted genomic | NC_000003.11:g.370 86066_37089603del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 37,086,066 | 37,089,603 |
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 |
---|---|---|---|---|---|---|---|
nssv17956036 | GRCh37: NC_000003.11:g.37086066_37089603del, GRCh38: NC_000003.12:g.37044575_37048112del | deletion | germline | LYNCH SYNDROME I; Lynch Syndrome; Lynch syndrome; Lynch syndrome I | not provided | ClinVar | RCV001806462.2, VCV001332889.4 |
nssv18326452 | GRCh37: NC_000003.11:g.37086066_37089603del, GRCh38: NC_000003.12:g.37044575_37048112del | deletion | germline | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2; Lynch Syndrome; Lynch syndrome; Lynch syndrome II | Pathogenic | ClinVar | RCV002287900.2, VCV001332889.4 |