NM_000518.5(HBB):c.316-8T>G AND Beta-plus-thalassemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 10, 1988
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000016711.28

Allele description [Variation Report for NM_000518.5(HBB):c.316-8T>G]

NM_000518.5(HBB):c.316-8T>G

Genes:

LOC110006319:beta-globin gene 3' regulatory region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000518.5(HBB):c.316-8T>G

Other names:

IVS II-843 (T>G)

HGVS:

NC_000011.10:g.5225734A>C
NG_000007.3:g.71882T>G
NG_046672.1:g.3669A>C
NG_053049.1:g.2055A>C
NG_059281.1:g.6338T>G
NM_000518.5:c.316-8T>GMANE SELECT
LRG_1232t1:c.316-8T>G
LRG_1232:g.6338T>G
NC_000011.9:g.5246964A>C
NC_000011.9:g.5246964A>C
NM_000518.4:c.316-8T>G

Note:

ClinGen staff contributed the HGVS expression for this variant.

Nucleotide change:

IVS1, C-A, -8

Links:

OMIM: 141900.0363; dbSNP: rs34793594

NCBI 1000 Genomes Browser:

rs34793594

Molecular consequence:

NM_000518.5:c.316-8T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Beta-plus-thalassemia
Identifiers:: MedGen: C3841475

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036981	OMIM	no assertion criteria provided	Pathogenic (Jun 10, 1988)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036981

OMIM

no assertion criteria provided

Pathogenic
(Jun 10, 1988)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A novel beta thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3' end of IVS 2.

Beldjord C, Lapoumeroulie C, Pagnier J, Benabadji M, Krishnamoorthy R, Labie D, Bank A.

Nucleic Acids Res. 1988 Jun 10;16(11):4927-35.

PubMed [citation]

PMID:: 3387213
PMCID:: PMC336707

Details of each submission

From OMIM, SCV000036981.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

A C-to-A change at position -8 in the acceptor splice site of IVS2 was found in an Algerian patient with beta-plus-thalassemia (613985) by Beldjord et al. (1988).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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