nsv1398467
- 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:70,808
- Description:
NM_000251.1(MSH2):c.646-?_(*272_?)del AND Lynch syndrome - Publication(s):ACMG Board of Directors et al. 2014, Church et al. 2001, Giardiello et al. 2014, Goggins et al. 2020, Goldberg et al. 2019, Green et al. 2013, Hegde et al. 2013, Kalia et al. 2016, Kohlmann et al. 2004, Lu et al. 2014, Menko et al. 2013, Mork et al. 2015, No authors et al. 2020, No authors et al. 2021, No authors et al. 2021, Robson et al. 2015, Seppälä et al. 2021, Stoffel et al. 2014, Syngal et al. 2015, Trepanier et al. 2004, Vasen et al. 2013
- ClinVar: RCV000076668.3
- ClinVar: VCV000091164.2
- GeneReviews: NBK1211
- MONDO: 0005835
- MedGen: C4552100
- PubMed: 11598466
- PubMed: 15604628
- PubMed: 20301390
- PubMed: 23408351
- PubMed: 23535968
- PubMed: 23788249
- PubMed: 24310308
- PubMed: 24493721
- PubMed: 25070057
- PubMed: 25356965
- PubMed: 25452455
- PubMed: 25645574
- PubMed: 25711197
- PubMed: 26324357
- PubMed: 26389210
- PubMed: 26389258
- PubMed: 26389505
- PubMed: 27854360
- PubMed: 31302137
- PubMed: 31672839
- PubMed: 34043773
- 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: 346 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 346 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv1398467 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 47,412,414 | 47,483,221 |
| nsv1398467 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 47,639,553 | 47,710,360 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv8639823 | deletion | Multiple | Multiple | Lynch Syndrome; Lynch syndrome | Pathogenic | ClinVar | RCV000076668.3, VCV000091164.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv8639823 | Submitted genomic | NC_000002.12:g.(?_ 47412414)_(4748322 1_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 47,412,414 | 47,483,221 |
| nssv8639823 | Submitted genomic | NC_000002.11:g.(?_ 47639553)_(4771036 0_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 47,639,553 | 47,710,360 |
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 |
|---|---|---|---|---|---|---|---|
| nssv8639823 | GRCh37: NC_000002.11:g.(?_47639553)_(47710360_?)del, GRCh38: NC_000002.12:g.(?_47412414)_(47483221_?)del | deletion | germline | Lynch Syndrome; Lynch syndrome | Pathogenic | ClinVar | RCV000076668.3, VCV000091164.2 |