ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Uncertain significance
- Review status:
- criteria provided, single submitter
- Submissions:
- 1
- First in ClinVar:
- Sep 9, 2019
- Most recent Submission:
- Sep 9, 2019
- Last evaluated:
- Jan 26, 2018
- Accession:
- VCV000689362.1
- Variation ID:
- 689362
- Description:
- tandem duplication
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Single allele
- Allele ID
- 676954
- Variant type
- Tandem duplication
- Variant length
- -
- Cytogenetic location
- 9q34.13
- Genomic location
- 9: 135803187-135807265 (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 |
|---|---|---|---|---|---|
| Uncertain significance | 1 | criteria provided, single submitter | Jan 26, 2018 | RCV000850068.1 |
Clinical features observed in individuals with this variant
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| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation viewer | Related variants | ||
|---|---|---|---|---|---|---|
| HI score Help | TS score Help | Within gene | All | |||
| TSC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4079 | 4129 | |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Uncertain significance
(Jan 26, 2018)
|
criteria provided, single submitter
Method: research
|
Affected status: yes
Allele origin:
germline
|
Academic Department of Medical Genetics, University of Cambridge
Accession: SCV000992234.1
First in ClinVar: Sep 09, 2019 Last updated: Sep 09, 2019 |
Clinical Features:
Testicular seminoma (present) , Malignant tumor of prostate (present) , Squamous cell lung carcinoma (present)
Zygosity: 1 Single Heterozygote
|
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 Nov 05, 2022