nsv5674286
- 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_001042492.3(NF1):c.1835_1836insAAAAATAAGGTG
GCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGNNNNNNNNNNAAAAAAA
AAAAAAAAAAAAA (p.Asn614fs) AND Neurofibromatosis, type 1 - Publication(s):Chen et al. 2010, Dome et al. 2003, Friedman et al. 1998, Lenders et al. 2014, Radtke et al. 2007, Robson et al. 2010, Trepanier et al. 2004
- ClinVar: RCV001385221.1
- ClinVar: VCV001072491.1
- GeneReviews: NBK1109
- MONDO: 0018975
- MedGen: C0027831
- OMIM: 162200
- OMIM: 613113.0001
- OMIM: 613113.0002
- OMIM: 613113.0003
- OMIM: 613113.0004
- OMIM: 613113.0005
- OMIM: 613113.0006
- OMIM: 613113.0007
- OMIM: 613113.0008
- OMIM: 613113.0009
- OMIM: 613113.0012
- OMIM: 613113.0013
- OMIM: 613113.0014
- OMIM: 613113.0015
- OMIM: 613113.0016
- OMIM: 613113.0021
- OMIM: 613113.0022
- OMIM: 613113.0023
- OMIM: 613113.0024
- OMIM: 613113.0025
- OMIM: 613113.0026
- OMIM: 613113.0027
- OMIM: 613113.0029
- OMIM: 613113.0030
- OMIM: 613113.0031
- OMIM: 613113.0032
- OMIM: 613113.0037
- OMIM: 613113.0038
- OMIM: 613113.0040
- OMIM: 613113.0041
- OMIM: 613113.0042
- OMIM: 613113.0043
- OMIM: 613113.0044
- OMIM: 613113.0046
- Orphanet: 636
- PubMed: 15604628
- PubMed: 17636453
- PubMed: 20065170
- PubMed: 20301288
- PubMed: 20301471
- PubMed: 20664475
- PubMed: 24893135
- 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: 142 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 142 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5674286 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 31,223,557 | 31,223,557 |
| nsv5674286 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 29,550,575 | 29,550,575 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17171512 | insertion | Multiple | Multiple | NEUROFIBROMATOSIS, TYPE I; NF1; Neurofibromatosis 1; Neurofibromatosis type 1; Neurofibromatosis, type 1; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001385221.1, VCV001072491.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17171512 | Submitted genomic | NC_000017.11:g.312 23557_31223558ins8 3 | GRCh38 (hg38) | NC_000017.11 | Chr17 | 31,223,557 | 31,223,557 |
| nssv17171512 | Submitted genomic | NC_000017.10:g.295 50575_29550576ins8 3 | GRCh37 (hg19) | NC_000017.10 | Chr17 | 29,550,575 | 29,550,575 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17171512 | GRCh37: NC_000017.10:g.29550575_29550576ins83, GRCh38: NC_000017.11:g.31223557_31223558ins83 | insertion | germline | NEUROFIBROMATOSIS, TYPE I; NF1; Neurofibromatosis 1; Neurofibromatosis type 1; Neurofibromatosis, type 1; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001385221.1, VCV001072491.1 |