nsv5060025
- 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:2
- Description:NM_000527.5(LDLR):c.2311+1941_*1216dup AND Hypercholesterolemia, familial, 1
- Publication(s):ACMG Board of Directors et al. 2014, Civeira et al. 2004, Cuchel et al. 2014, Feldman et al. 2015, Goldberg et al. 2011, Green et al. 2013, Kalia et al. 2016, Miller et al. 2021, Miller et al. 2022, Mysliwiec et al. 2014, Rynkiewicz et al. 2013, Sullivan et al. 2012, Watts et al. 2013, Youngblom et al. 2014
- ClinVar: RCV000237281.2
- ClinVar: VCV000252276.2
- GeneReviews: NBK174884
- MONDO: 0007750
- MedGen: C0745103
- OMIM: 143890
- OMIM: 144400
- OMIM: 600946.0028
- Orphanet: 391665
- PubMed: 15177124
- PubMed: 21600525
- PubMed: 22364837
- PubMed: 23725921
- PubMed: 23788249
- PubMed: 24404629
- PubMed: 24418289
- PubMed: 24636176
- PubMed: 25053660
- PubMed: 25356965
- PubMed: 25404096
- 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: 78 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5060025 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 11,125,280 | 11,125,281 |
| nsv5060025 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 11,235,956 | 11,235,957 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15146941 | duplication | Multiple | Multiple | Familial Hypercholesterolemia; Familial hypercholesterolemia; HYPERCHOLESTEROLEMIA, FAMILIAL; Homozygous familial hypercholesterolemia; MOVED TO 143890; See individual phenotypes in OMIM allelic variants | Conflicting interpretations of pathogenicity | ClinVar | RCV000237281.2, VCV000252276.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15146941 | Submitted genomic | NC_000019.10:g.111 25280_11125281dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 11,125,280 | 11,125,281 |
| nssv15146941 | Submitted genomic | NC_000019.9:g.1123 5956_11235957dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 11,235,956 | 11,235,957 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15146941 | GRCh37: NC_000019.9:g.11235956_11235957dup, GRCh38: NC_000019.10:g.11125280_11125281dup | duplication | see ClinVar for details | Familial Hypercholesterolemia; Familial hypercholesterolemia; HYPERCHOLESTEROLEMIA, FAMILIAL; Homozygous familial hypercholesterolemia; MOVED TO 143890; See individual phenotypes in OMIM allelic variants | Conflicting interpretations of pathogenicity | ClinVar | RCV000237281.2, VCV000252276.2 |