IthaID: 4152
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | IVS I-9 (C>T) | HGVS Name: | HBB:c.92+9C>T |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Identified by next-generation sequencing (NGS) using the Devyser Thalassemia panel and confirmed by Sanger sequencing. The patient’s hematological profile is consistent with a β-thalassemia trait phenotype, despite normal Hb A₂ levels (2.8–3.1%). Laboratory findings include microcytosis and hypochromia with normal iron level. In silico analyses (SpliceAI, MaxEntScan, NNSplice) predict disruption of the canonical donor splice site at intron 1, suggesting reduced splicing efficiency. According to ACMG guidelines, the variant is classified as of uncertain significance (VUS), supported by criteria PM2, PP4, and BP6.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β+ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70695 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Intron 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Consensus splice site (mRNA Processing) |
| Ethnic Origin: | Spanish (Cantabria, Northern Spain) |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Ropero Gradilla, Paloma | 2025-07-14 | First report. |