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:
- May 9, 2018
- Most recent Submission:
- May 9, 2018
- Last evaluated:
- Jan 12, 2002
- Accession:
- VCV000015594.1
- Variation ID:
- 15594
- Description:
- deletion
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chr11:g.(LOH11A_HBB)del
- Allele ID
- 30633
- Variant type
- Deletion
- Variant length
- -
- Cytogenetic location
- 11p15.4
- Genomic location
- -
- HGVS
- -
- Protein change
- -
- Other names
- HBB, DEL, SOMATIC
- Canonical SPDI
- -
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- OMIM: 141900.0505
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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 | Jan 12, 2002 | RCV000016861.29 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Jan 12, 2002)
|
no assertion criteria provided
Method: literature only
|
Affected status: not provided
Allele origin:
somatic
|
OMIM
Accession: SCV000037131.3
First in ClinVar: Apr 04, 2013 Last updated: May 09, 2018 |
Comment on evidence:
Badens et al. (2002) described a 'new' mechanism leading to thalassemia intermedia (613985), a moderate form of thalassemia: a somatic deletion of the HBB gene … (more)
Badens et al. (2002) described a 'new' mechanism leading to thalassemia intermedia (613985), a moderate form of thalassemia: a somatic deletion of the HBB gene in the hemopoietic lineage of a heterozygous beta-thalassemic patient. The deletion occurred on the chromosome 11 inherited from the mother, who had no abnormality of the HBB gene. The father had a beta-thalassemic trait due to the Mediterranean HBB nonsense mutation (141900.0312). The deletion gave rise to a mosaic of cells with either 1 or no functional beta-globin gene and it extended to a region of frequent loss of heterozygosity called LOH11A, which is located close to the HBB locus. Thus, loss of heterozygosity can be a cause of nonmalignant genetic disease. (less)
|
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 |
|---|---|---|---|---|
| A novel mechanism for thalassaemia intermedia. | Badens C | Lancet (London, England) | 2002 | PMID: 11809258 |
Record last updated Sep 30, 2023