IthaID: 2183

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Variant of Uncertain Significance
Common Name:	IVS II-781 C>G	HGVS Name:	HBB:c.316-70C>G
Hb Name:	N/A	Protein Info:	β nt 1276 C>G

Context nucleotide sequence:
CTTTTATTTTATGGTTGGGATAAGG [C/G] TGGATTATTCTGAGTCCAAGCTAGG (Strand: -)

Also known as:

Comments: In the first report described as a β+ variant in a case with heterozygosity with the Hb A2’, HBD:c.49G>C [IthaID:1356], presented with elevated HbA2 4.4% but normal haematological indices. Furthermore, found in coinheritance with other α-, β- or δ-globin gene defects, shown no influence or change of this sequence variant on the expected hematological and clinical indices as simple carrier. The HBB:c.316-70C>G, was associated with Hb A2’ in most cases, suggesting that these two mutations are in linkage.

External Links

HbVar	dbSNP
LOVD	ClinVar

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	β-thalassaemia
Allele Phenotype:	Unclear
Associated Phenotypes:	Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972]

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	11
Locus:	NG_000007.3
Locus Location:	71820
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:	African
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed
Vinciguerra M, Passarello C, Leto F, Crivello A, Fustaneo M, Cassarà F, Cannata M, Maggio A, Giambona A, Coinheritance of a Rare Nucleotide Substitution on the β-Globin Gene and Other Known Mutations in the Globin Clusters: Management in Genetic Counseling., Hemoglobin, 40(4), 231-5, 2016 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 2013-09-30 16:20:59, Last reviewed on 2022-02-17 21:40:35 (Show full history)

A/A	Date	Curator(s)	Comments
1	2013-09-30 16:20:59	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2014-04-17 09:48:42	The IthaGenes Curation Team	Reviewed. Added context sequence and corrected HGVS name.
4	2016-08-31 17:50:32	The IthaGenes Curation Team	Reviewed. Update of comment section. β+ phenotype checked. Confirmed by sequencing. Reference added.
5	2022-02-15 13:50:40	The IthaGenes Curation Team	Reviewed.
6	2022-02-15 14:01:02	The IthaGenes Curation Team	Reviewed. Reference added.
7	2022-02-17 21:36:01	The IthaGenes Curation Team	Reviewed. Comment added.
8	2022-02-17 21:37:43	The IthaGenes Curation Team	Reviewed. Chromosome location corrected.
9	2022-02-17 21:40:35	The IthaGenes Curation Team	Reviewed.

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