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:
- Sep 28, 2018
- Most recent Submission:
- Sep 28, 2018
- Last evaluated:
- Aug 22, 2018
- Accession:
- VCV000562130.1
- Variation ID:
- 562130
- Description:
- 2.4Mb copy number loss
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GRCh37/hg19 9p23-22.2(chr9:14178768-16619009)x1
- Allele ID
- 553304
- Variant type
- copy number loss
- Variant length
- 2,440,242 bp
- Cytogenetic location
- 9p23-22.2
- Genomic location
- 9: 14178768-16619009 (GRCh37) GRCh37 UCSC
- HGVS
- -
- 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 | Aug 22, 2018 | RCV000681561.2 |
Help
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation viewer | Related variants | ||
|---|---|---|---|---|---|---|
| HI score Help | TS score Help | Within gene | All | |||
| FREM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
730 | 871 | |
| BNC2 | - | - |
GRCh38 GRCh37 |
85 | 224 | |
| CCDC171 | - | - | - |
GRCh38 GRCh37 |
67 | 168 |
| CER1 | - | - |
GRCh38 GRCh37 |
11 | 119 | |
| NFIB | - | - |
GRCh38 GRCh37 |
89 | 214 | |
| PSIP1 | - | - |
GRCh38 GRCh37 |
19 | 128 | |
| SNAPC3 | - | - |
GRCh38 GRCh37 |
22 | 131 | |
| TTC39B | - | - |
GRCh38 GRCh37 |
56 | 161 | |
| ZDHHC21 | - | - |
GRCh38 GRCh37 |
9 | 122 | |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Aug 22, 2018)
|
no assertion criteria provided
Method: clinical testing
|
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
de novo
|
Department of Human Genetics, University Hospital Magdeburg
Accession: SCV000809035.1
First in ClinVar: Sep 28, 2018 Last updated: Sep 28, 2018 |
Number of individuals with the variant: 1
|
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| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. | Schanze I | American journal of human genetics | 2018 | PMID: 30388402 |
Record last updated Sep 30, 2023