IthaID: 213
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
Common Name: | IVS II-726 A>G | HGVS Name: | HBB:c.316-125A>G |
Hb Name: | N/A | Protein Info: | β nt 1221 A>G |
Context nucleotide sequence:
CTGATGTAAGAGGTTTCATATTGCT [A/G] ATAGCAGCTACAATCCAGCTACCAT (Strand: -)
Also known as:
Comments: Found in a homozygous state in an 8-year-old Moroccan male with beta-thalassaemia intermedia. Mother was heterozygous for this variant with blood profiles consistent with β-thalassaemia trait [PMID: 17994377]. Detected as a heterozygote (normal or borderline red cell indices) and in association with β0 IVS I-1 G>A ( heterozygous trait phenotype) in the resident Sicilian population [PMID: 29171316]. Detected as a heterozygote in five individuals with normal hematology and in association with Hb D-Punjab without a thalassaemia phenotype [PMID: 30047296]. Reported as a mild β+ allele.
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: | 71765 |
Size: | 1 bp |
Located at: | β |
Specific Location: | Intron 2 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
---|---|
Effect on Gene/Protein Function: | N/A |
Ethnic Origin: | Moroccan, 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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Frequencies
Publications / Origin
- Agouti I, Bennani M, Ahmed A, Barakat A, Mohamed K, Badens C, Thalassemia intermedia due to a novel mutation in the second intervening sequence of the beta-globin gene., Hemoglobin, 31(4), 433-8, 2007 PubMed
- Vinciguerra M, Cannata M, Cassarà F, Passarello C, Leto F, Calvaruso G, Renda D, Maggio A, Giambona A, HBB: c.316-125A>G and HBB: c.316-42delC: Phenotypic Evaluations of Two Rare Changes in the Second Intron of the HBB Gene., Hemoglobin, 41(0), 234-238, 2017 PubMed
- Grimholt RM, Harteveld CL, Arkesteijn SGJ, Fjeld B, Klingenberg O, Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance., Hemoglobin, 42(2), 126-128, 2018 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2023-02-23 11:32:14 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
2 | 2014-03-12 15:36:25 | The IthaGenes Curation Team | Reviewed. |
3 | 2014-06-05 08:49:14 | The IthaGenes Curation Team | Reviewed. Reference added. |
4 | 2021-05-24 11:42:02 | The IthaGenes Curation Team | Reviewed. Comment and effect on gene added. |
5 | 2021-05-24 11:57:54 | The IthaGenes Curation Team | Reviewed. Reference added. |
6 | 2022-02-15 13:18:46 | The IthaGenes Curation Team | Reviewed. Comment and Ethnic Origin updated. |
7 | 2022-02-15 13:47:23 | The IthaGenes Curation Team | Reviewed. Reference added. |
8 | 2023-02-23 11:32:14 | The IthaGenes Curation Team | Reviewed. Comment updated |
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IthaGenes was last updated on 2023-03-22 16:46:31