nsv1398513
- 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:19,563
- Description:
See descriptions for individual calls in download files - Publication(s):ACMG Board of Directors et al. 2014, American College of Obstetricians and Gynecologists et al. 2009, American Society of Clinical Oncology et al. 2003, Berliner et al. 2007, Berliner et al. 2012, Berliner et al. 2021, Burstein et al. 2021, Green et al. 2013, Hampel et al. 2014, Kalia et al. 2016, Lu et al. 2014, Miller et al. 2021, Miller et al. 2022, Moyer et al. 2014, Nelson et al. 2013, Nelson et al. 2019, No authors et al. 2014, No authors et al. 2021, No authors et al. 2021, Petrucelli et al. 1998, Phillips et al. 2013, Robson et al. 2010, Robson et al. 2015, Saslow et al. 2007, Stratton et al. 2008, Trepanier et al. 2004, US Preventive Services Task Force et al. 2019
- ClinVar: RCV000074593.3
- ClinVar: RCV000119187.3
- ClinVar: RCV000258402.4
- ClinVar: VCV000089063.4
- GeneReviews: NBK1247
- MONDO: 0003582
- MONDO: 0011450
- MONDO: 0016419
- MeSH: D061325
- MedGen: C0346153
- MedGen: C0677776
- MedGen: C2676676
- OMIM: 114480
- OMIM: 602667.0001
- OMIM: 604370
- OMIM: PS604370
- Orphanet: 145
- PubMed: 12692171
- PubMed: 15604628
- PubMed: 17392385
- PubMed: 17508274
- PubMed: 18163131
- PubMed: 19305347
- PubMed: 20065170
- PubMed: 20301425
- PubMed: 23188549
- PubMed: 23788249
- PubMed: 23918944
- PubMed: 24366376
- PubMed: 24366402
- PubMed: 24432435
- PubMed: 24493721
- PubMed: 25356965
- PubMed: 25394175
- PubMed: 26324357
- PubMed: 26389210
- PubMed: 26389258
- PubMed: 27854360
- PubMed: 31429903
- PubMed: 31479213
- PubMed: 33410258
- PubMed: 34012068
- PubMed: 34242744
- 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: 201 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 201 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv1398513 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 43,057,052 | 43,076,614 |
| nsv1398513 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 41,209,069 | 41,228,631 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15120001 | deletion | Multiple | Multiple | BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; Breast-ovarian cancer, familial, susceptibility to; Hereditary Breast and Ovarian Cancer Syndrome; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome | Pathogenic | ClinVar | RCV000119187.3, VCV000089063.4 |
| nssv15124967 | deletion | Multiple | Multiple | BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000258402.4, VCV000089063.4 |
| nssv8639868 | deletion | Multiple | Multiple | BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST CANCER; Familial cancer of breast | Pathogenic | ClinVar | RCV000074593.3, VCV000089063.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120001 | Submitted genomic | NC_000017.11:g.(?_ 43057052)_(4307661 4_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 43,057,052 | 43,076,614 |
| nssv15124967 | Submitted genomic | NC_000017.11:g.(?_ 43057052)_(4307661 4_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 43,057,052 | 43,076,614 |
| nssv8639868 | Submitted genomic | NC_000017.11:g.(?_ 43057052)_(4307661 4_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 43,057,052 | 43,076,614 |
| nssv15120001 | Submitted genomic | NC_000017.10:g.(?_ 41209069)_(4122863 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 41,209,069 | 41,228,631 |
| nssv15124967 | Submitted genomic | NC_000017.10:g.(?_ 41209069)_(4122863 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 41,209,069 | 41,228,631 |
| nssv8639868 | Submitted genomic | NC_000017.10:g.(?_ 41209069)_(4122863 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 41,209,069 | 41,228,631 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15120001 | GRCh37: NC_000017.10:g.(?_41209069)_(41228631_?)del, GRCh38: NC_000017.11:g.(?_43057052)_(43076614_?)del | deletion | see ClinVar for details | BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; Breast-ovarian cancer, familial, susceptibility to; Hereditary Breast and Ovarian Cancer Syndrome; Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer syndrome | Pathogenic | ClinVar | RCV000119187.3, VCV000089063.4 |
| nssv15124967 | GRCh37: NC_000017.10:g.(?_41209069)_(41228631_?)del, GRCh38: NC_000017.11:g.(?_43057052)_(43076614_?)del | deletion | germline | BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000258402.4, VCV000089063.4 |
| nssv8639868 | GRCh37: NC_000017.10:g.(?_41209069)_(41228631_?)del, GRCh38: NC_000017.11:g.(?_43057052)_(43076614_?)del | deletion | germline | BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST CANCER; Familial cancer of breast | Pathogenic | ClinVar | RCV000074593.3, VCV000089063.4 |