nsv3887539
- 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:17,656
- Description:NG_005905.2:g.(154652_160848)_(172307_?)del AND Breast-ovarian cancer, familial, susceptibility to, 1
- 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, 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, 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
- ClinVar: RCV000414458.4
- ClinVar: VCV000373868.3
- GeneReviews: NBK1247
- MONDO: 0011450
- MedGen: C2676676
- OMIM: 602667.0001
- OMIM: 604370
- 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: 26389258
- PubMed: 27854360
- PubMed: 31429903
- PubMed: 31479213
- PubMed: 33410258
- PubMed: 34012068
- 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: 192 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 192 SVs from 31 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|
nsv3887539 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 43,045,677 | 43,057,136 | 43,063,332 |
nsv3887539 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 41,197,694 | 41,209,153 | 41,215,349 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv15147755 | 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 | RCV000414458.4, VCV000373868.3 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|
nssv15147755 | Submitted genomic | NC_000017.11:g.(?_ 43045677)_(4305713 6_43063332)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 43,045,677 | 43,057,136 | 43,063,332 |
nssv15147755 | Submitted genomic | NC_000017.10:g.(?_ 41197694)_(4120915 3_41215349)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 41,197,694 | 41,209,153 | 41,215,349 |
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 |
---|---|---|---|---|---|---|---|
nssv15147755 | GRCh37: NC_000017.10:g.(?_41197694)_(41209153_41215349)del, GRCh38: NC_000017.11:g.(?_43045677)_(43057136_43063332)del | deletion | see ClinVar for details | 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 | RCV000414458.4, VCV000373868.3 |