nsv5564159
- 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:64
- Description:NM_058216.3(RAD51C):c.966-2_1026+1del AND Malignant tumor of breast
- Publication(s):Burstein et al. 2019, No authors et al. 2021, No authors et al. 2021, Ramakrishna et al. 2018, US Preventive Services Task Force et al. 2019
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 101 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5564159 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 58,732,482 | 58,732,545 |
| nsv5564159 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 56,809,843 | 56,809,906 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17059439 | deletion | Multiple | Multiple | Familial cancer of breast | Pathogenic | ClinVar | RCV001355171.2, VCV001049265.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17059439 | Submitted genomic | NC_000017.11:g.587 32482_58732545del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 58,732,482 | 58,732,545 |
| nssv17059439 | Submitted genomic | NC_000017.10:g.568 09843_56809906del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 56,809,843 | 56,809,906 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17059439 | GRCh37: NC_000017.10:g.56809843_56809906del, GRCh38: NC_000017.11:g.58732482_58732545del | deletion | unknown | Familial cancer of breast | Pathogenic | ClinVar | RCV001355171.2, VCV001049265.2 |