IthaID: 2200

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	Pathogenic / Likely Pathogenic
Common Name:	IVS II-765 L1 insertion (+CTGCTTTTATTTT)	HGVS Name:	HBB:c.316-98_316-86dup
Hb Name:	N/A	Protein Info:	β nts CTGCTTTTATTTT inserted between nts 1260 and 1261
Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Comments: Insertion of the full-length transposable element LINE-1 (L1) into the intron-2 of the β-globin gene. The transcript level of the affected β-globin gene was severely reduced.

External Links

HbVar	LOVD
ClinVar

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	β-thalassaemia
Allele Phenotype:	β+
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:	71792
Size:	13 bp
Located at:	β
Specific Location:	Intron 2

Other details

Type of Mutation:	Point-Mutation(Insertion)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	Ukrainian
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	No

In silico pathogenicity prediction

Frequencies

Publications / Origin

Lanikova L, Kucerova J, Indrak K, Divoka M, Issa JP, Papayannopoulou T, Prchal JT, Divoky V, β-Thalassemia Due to Intronic LINE-1 Insertion in the β-Globin Gene (HBB): Molecular Mechanisms Underlying Reduced Transcript Levels of the β-GlobinL1 Allele., Hum. Mutat. , 34(10), 1361-5, 2013

Created on 2013-10-01 17:12:03, Last reviewed on 2021-10-11 15:21:08 (Show full history)

A/A	Date	Curator(s)	Comments
1	2013-10-01 17:12:03	The IthaGenes Curation Team	Created
2	2013-10-15 17:00:14	The IthaGenes Curation Team	Reviewed.
3	2021-10-11 15:21:08	The IthaGenes Curation Team	Reviewed. HGVS name, locus and chromosome location corrected.

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