IthaID: 3345
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CAP +22 (G>T) | HGVS Name: | HBB:c.-29G>T |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GCTTACATTTGCTTCTGACACAACT [T>G] TGTTCACTAGCAACCTCAAACAGAC (Strand: -)
Also known as:
Comments: Silent β-globin mutation found in a heterozygous state and in compound heterozygosity with the β0-thalassaemic allele HBB:c.92+1G>A [ithaID=101]. Following a pregnancy, the combination of the two alleles led to severe anemia with thansfusion-dependent β-thalassaemia intermedia phenotype.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β++ |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70566 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | 5'UTR |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | 5'UTR (Transcription) |
| Ethnic Origin: | Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Vinciguerra M, Passarello C, Cassarà F, Leto F, Cannata M, Calvaruso G, Renda D, Maggio A, Giambona A, Coheredity of a new silent mutation: c.-29G>T, with a severe β-thal mutation in a patient with β-thalassemia intermediate., Int J Lab Hematol, 40(2), e17-e20, 2018 PubMed
Created on 2019-03-26 16:45:09,
Last reviewed on (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2019-03-26 16:45:09 | The IthaGenes Curation Team | Created |
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IthaGenes was last updated on 2024-11-20 13:24:07