ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Pathogenic
- Review status:
- no assertion criteria provided
- Submissions:
- 1
- First in ClinVar:
- Apr 18, 2021
- Most recent Submission:
- Apr 18, 2021
- Last evaluated:
- Apr 16, 2021
- Accession:
- VCV001064533.1
- Variation ID:
- 1064533
- Description:
- 3.8Mb deletion
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Single allele
- Allele ID
- 1052723
- Variant type
- Deletion
- Variant length
- 3,761,168 bp
- Cytogenetic location
- 3p14.1-13
- Genomic location
- 3: 68939251-72700418 (GRCh37) GRCh37 UCSC
- HGVS
-
Nucleotide Protein Molecular
consequenceNC_000003.11:g.(68939251_68965654)_(72679568_72700418)del - Protein change
- -
- Other names
- -
- Canonical SPDI
- -
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 1 | no assertion criteria provided | Apr 16, 2021 | RCV001374461.1 |
Help
There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation viewer | Related variants | ||
|---|---|---|---|---|---|---|
| HI score Help | TS score Help | Within gene | All | |||
| FOXP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
603 | 663 | |
| MITF | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
493 | 516 | |
| ARL6IP5 | - | - |
GRCh38 GRCh37 |
3 | 22 | |
| EIF4E3 | - | - |
GRCh38 GRCh37 |
8 | 49 | |
| EOGT | - | - |
GRCh38 GRCh37 |
195 | 210 | |
| FOXP1-IT1 | - | - | - | GRCh37 | - | 18 |
| FRMD4B | - | - |
GRCh38 GRCh37 |
34 | 48 | |
| GPR27 | - | - |
GRCh38 GRCh37 |
6 | 47 | |
| LMOD3 | - | - |
GRCh38 GRCh37 |
307 | 389 | |
| PROK2 | - | - |
GRCh38 GRCh37 |
43 | 63 | |
There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Apr 16, 2021)
|
no assertion criteria provided
Method: clinical testing
|
See cases
Affected status: yes
Allele origin:
not-reported
|
Daryl Scott Lab,Baylor College of Medicine
Accession: SCV001571333.1
First in ClinVar: Apr 18, 2021 Last updated: Apr 18, 2021 |
Clinical Features:
Congenital diaphragmatic hernia (present) , Atrial septal defect (present) , Developmental dysplasia of the hip (present) , Horseshoe kidney (present) , Failure to thrive (present) … (more)
Congenital diaphragmatic hernia (present) , Atrial septal defect (present) , Developmental dysplasia of the hip (present) , Horseshoe kidney (present) , Failure to thrive (present) , Global developmental delay (present) , Cerebellar vermis hypoplasia (present) , Enlarged cisterna magna (present) , Bilateral cryptorchidism (present) (less)
Age: 0-9 years
Sex: male
Ethnicity/Population group: Ashkenazi Jewish
Testing laboratory: Claritas Genomics
Date variant was reported to submitter: 2013-11-25
Testing laboratory interpretation: Pathogenic
|
Functional evidence
Help| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for this variant
Help| There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Record last updated Mar 26, 2023