nsv4578561
- 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:122
- Description:NM_000059.3(BRCA2):c.8633_8754del122 AND Breast-ovarian cancer, familial, susceptibility to, 2
- Publication(s):ACMG Board of Directors et al. 2014, American College of Obstetricians and Gynecologists et al. 2009, Berliner et al. 2007, Berliner et al. 2012, Berliner et al. 2021, Goggins et al. 2020, 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, Petrucelli et al. 1998, Phillips et al. 2013, Robson et al. 2010, Robson et al. 2015, Saslow et al. 2007, Trepanier et al. 2004, US Preventive Services Task Force et al. 2019
- ClinGen: CA025753
- ClinVar: RCV000113977.8
- ClinVar: VCV000052645.3
- GeneReviews: NBK1247
- MONDO: 0012933
- MedGen: C2675520
- OMIM: 612555
- Orphanet: 145
- PubMed: 15604628
- PubMed: 17392385
- PubMed: 17508274
- 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: 27854360
- PubMed: 31429903
- PubMed: 31479213
- PubMed: 31672839
- PubMed: 33410258
- PubMed: 34012068
- PubMed: 35802134
- dbSNP: rs1555288117
- 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: 67 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 67 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4578561 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000013.11 | Chr13 | 32,376,668 | 32,376,789 |
| nsv4578561 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 32,950,805 | 32,950,926 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv8639537 | deletion | Multiple | Multiple | BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2; Breast-ovarian cancer, familial 2; Hereditary breast and ovarian cancer syndrome | Pathogenic | ClinVar | RCV000113977.8, VCV000052645.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv8639537 | Submitted genomic | NC_000013.11:g.323 76668_32376789del | GRCh38 (hg38) | NC_000013.11 | Chr13 | 32,376,668 | 32,376,789 |
| nssv8639537 | Submitted genomic | NC_000013.10:g.329 50805_32950926del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 32,950,805 | 32,950,926 |
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 |
|---|---|---|---|---|---|---|---|
| nssv8639537 | GRCh37: NC_000013.10:g.32950805_32950926del, GRCh38: NC_000013.11:g.32376668_32376789del | deletion | somatic | BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer; BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2; Breast-ovarian cancer, familial 2; Hereditary breast and ovarian cancer syndrome | Pathogenic | ClinVar | RCV000113977.8, VCV000052645.3 |