nsv6314476
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:translocation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Description:
46;XY;t(4;7)(q31;q22)dn AND multiple conditions - Publication(s):Manickam et al. 2021, Michelson et al. 2011, Redin et al. 2016
- ClinVar: RCV000258595.2
- ClinVar: VCV000267911.1
- HP: 0000729
- HP: 0000750
- HP: 0000957
- HP: 0001263
- HP: 0001270
- HP: 0007018
- HP: 0010865
- HP: 0011968
- HP: 0100851
- MONDO: 0000495
- MONDO: 0007743
- MedGen: C0029121
- MedGen: C0221263
- MedGen: C0232466
- MedGen: C0454644
- MedGen: C0557874
- MedGen: C0856975
- MedGen: C1263846
- MedGen: C1854301
- MedGen: C4020949
- OMIM: 143465
- PubMed: 21956720
- PubMed: 27841880
- PubMed: 34211152
- 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: 111 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 111 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv6314476 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 120,216,282 | 120,216,282 | + |
| nsv6314476 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 81,477,505 | 81,477,505 | + |
| nsv6314476 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187544.1 | Chr4|NT_18 7544.1 | 52,099 | 52,099 | + |
| nsv6314476 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 121,137,437 | 121,137,437 | + | ||
| nsv6314476 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 81,106,821 | 81,106,821 | + |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17975424 | interchromosomal translocation | Multiple | Multiple | ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Abnormal emotion/affect behavior; Abnormal emotion/affect behavior; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Autistic behavior; Autistic behavior; Cafe-au-lait spot; Cafe-au-lait spot; Delayed speech and language development; Delayed speech and language development; Feeding difficulties; Feeding difficulties; Global developmental delay; Global developmental delay; Motor delay; Motor delay; Oppositional defiant disorder; Oppositional defiant disorder | Uncertain significance | ClinVar | RCV000258595.2, VCV000267911.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv17975424 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187544.1 | Chr4|NT_18 7544.1 | 52,099 | 52,099 | + |
| nssv17975424 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 120,216,282 | 120,216,282 | + |
| nssv17975424 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 81,477,505 | 81,477,505 | + |
| nssv17975424 | Submitted genomic | GRCh37 (hg19) | NC_000004.11 | Chr4 | 121,137,437 | 121,137,437 | + | ||
| nssv17975424 | Submitted genomic | GRCh37 (hg19) | NC_000007.13 | Chr7 | 81,106,821 | 81,106,821 | + |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|
| nssv17975424 | interchromosomal translocation | de novo | ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Abnormal emotion/affect behavior; Abnormal emotion/affect behavior; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Autistic behavior; Autistic behavior; Cafe-au-lait spot; Cafe-au-lait spot; Delayed speech and language development; Delayed speech and language development; Feeding difficulties; Feeding difficulties; Global developmental delay; Global developmental delay; Motor delay; Motor delay; Oppositional defiant disorder; Oppositional defiant disorder | Uncertain significance | ClinVar | RCV000258595.2, VCV000267911.1 |