nsv7093446
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:delins
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:504
- Description:NM_006231.4(POLE):c.3632_3974del343insGAC (p.Asp1211fs) AND Colorectal cancer, susceptibility to, 12
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 98 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 98 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7093446 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 132,649,337 | 132,649,840 |
| nsv7093446 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 133,225,923 | 133,226,426 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786184 | delins | Multiple | Multiple | Attenuated familial adenomatous polyposis; COLORECTAL CANCER, SUSCEPTIBILITY TO, 12; CRCS12; Colorectal cancer, susceptibility to, 12 | Pathogenic | ClinVar | RCV003044978.1, VCV002134514.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786184 | Submitted genomic | NC_000012.12:g.132 649337_132649840de linsGTC | GRCh38 (hg38) | NC_000012.12 | Chr12 | 132,649,337 | 132,649,840 |
| nssv18786184 | Submitted genomic | NC_000012.11:g.133 225923_133226426de linsGTC | GRCh37 (hg19) | NC_000012.11 | Chr12 | 133,225,923 | 133,226,426 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786184 | GRCh37: NC_000012.11:g.133225923_133226426delinsGTC, GRCh38: NC_000012.12:g.132649337_132649840delinsGTC | delins | germline | Attenuated familial adenomatous polyposis; COLORECTAL CANCER, SUSCEPTIBILITY TO, 12; CRCS12; Colorectal cancer, susceptibility to, 12 | Pathogenic | ClinVar | RCV003044978.1, VCV002134514.1 |