nsv4454357
- 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:823
- Description:NC_000003.12:g.(?_52405100)_(52405922_?)del AND BAP1-related tumor predisposition syndrome
- Publication(s):Pilarski et al. 2016
- ClinVar: RCV000794827.6
- ClinVar: VCV000641561.8
- GeneReviews: NBK390611
- MONDO: 0013692
- MedGen: C3280492
- OMIM: 603089.0001
- OMIM: 603089.0002
- OMIM: 603089.0003
- OMIM: 603089.0004
- OMIM: 603089.0005
- OMIM: 603089.0006
- OMIM: 603089.0007
- OMIM: 603089.0008
- OMIM: 603089.0009
- OMIM: 603089.0010
- OMIM: 603089.0015
- OMIM: 614327
- Orphanet: 289539
- PubMed: 27748099
- 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: 94 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 25 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nsv4454357 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 52,405,100 | 52,405,922 |
nsv4454357 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 52,439,116 | 52,439,938 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv15770075 | deletion | Multiple | Multiple | BAP1 Tumor Predisposition Syndrome; BAP1-related tumor predisposition syndrome; See individual phenotypes in OMIM allelic variants; TUMOR PREDISPOSITION SYNDROME; TPDS; Tumor susceptibility linked to germline BAP1 mutations | Likely pathogenic | ClinVar | RCV000794827.6, VCV000641561.8 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nssv15770075 | Submitted genomic | NC_000003.12:g.(?_ 52405100)_(5240592 2_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 52,405,100 | 52,405,922 |
nssv15770075 | Submitted genomic | NC_000003.11:g.(?_ 52439116)_(5243993 8_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 52,439,116 | 52,439,938 |
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 |
---|---|---|---|---|---|---|---|
nssv15770075 | GRCh37: NC_000003.11:g.(?_52439116)_(52439938_?)del, GRCh38: NC_000003.12:g.(?_52405100)_(52405922_?)del | deletion | germline | BAP1 Tumor Predisposition Syndrome; BAP1-related tumor predisposition syndrome; See individual phenotypes in OMIM allelic variants; TUMOR PREDISPOSITION SYNDROME; TPDS; Tumor susceptibility linked to germline BAP1 mutations | Likely pathogenic | ClinVar | RCV000794827.6, VCV000641561.8 |