nsv5674314
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:insertion
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Description:NM_000038.6(APC):c.4582_4583insGCCGGGCGCGGTGGC
TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA
GATCGAGGCNNNNNNNNNNAAAAAAAAAAAAGAATAATGCCTCCAG (p.Val1528delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluAlaXaaXaaXaaLysLysLysLysGluTer) AND Familial adenomatous polyposis 1 - Publication(s):ACMG Board of Directors et al. 2014, Aretz et al. 2011, Church et al. 2001, Green et al. 2013, Hegde et al. 2013, Jasperson et al. 1998, Kalia et al. 2016, Miller et al. 2021, Miller et al. 2022, No authors et al. 2021, Stoffel et al. 2014, Syngal et al. 2015, Trepanier et al. 2004
- ClinVar: RCV002551550.6
- ClinVar: VCV001073762.7
- GeneReviews: NBK1345
- MONDO: 0021056
- MedGen: C2713442
- OMIM: 175100
- OMIM: 611731.0021
- OMIM: 611731.0028
- OMIM: 611731.0034
- OMIM: 611731.0035
- OMIM: 611731.0036
- OMIM: 611731.0038
- OMIM: 611731.0042
- OMIM: 611731.0043
- OMIM: 611731.0049
- PubMed: 11598466
- PubMed: 15604628
- PubMed: 20301519
- PubMed: 21368914
- PubMed: 23788249
- PubMed: 24310308
- PubMed: 25356965
- PubMed: 25452455
- PubMed: 25645574
- PubMed: 26389258
- PubMed: 27854360
- 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: 112 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5674314 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 112,840,159 | 112,840,159 |
| nsv5674314 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 112,175,856 | 112,175,856 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786396 | insertion | Multiple | Multiple | APC-Associated Polyposis Conditions; FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1; Familial adenomatous polyposis 1; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV002551550.6, VCV001073762.7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786396 | Submitted genomic | NC_000005.10:g.112 840159_112840160in s119 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 112,840,159 | 112,840,159 |
| nssv18786396 | Submitted genomic | NC_000005.9:g.1121 75856_112175857ins 119 | GRCh37 (hg19) | NC_000005.9 | Chr5 | 112,175,856 | 112,175,856 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786396 | GRCh37: NC_000005.9:g.112175856_112175857ins119, GRCh38: NC_000005.10:g.112840159_112840160ins119 | insertion | germline | APC-Associated Polyposis Conditions; FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1; Familial adenomatous polyposis 1; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV002551550.6, VCV001073762.7 |