NM_000518.5(HBB):c.*110T>C AND Beta-plus-thalassemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 1985
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:: RCV000016730.36

Allele description [Variation Report for NM_000518.5(HBB):c.*110T>C]

NM_000518.5(HBB):c.*110T>C

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.*110T>C

Other names:

AACAAA

HGVS:

NC_000011.10:g.5225488A>G
NG_000007.3:g.72128T>C
NG_046672.1:g.3423A>G
NG_053049.1:g.1809A>G
NG_059281.1:g.6584T>C
NM_000518.4(HBB):c.*110T>C
NM_000518.5:c.*110T>CMANE SELECT
LRG_1232t1:c.*110T>C
LRG_1232:g.6584T>C
NC_000011.9:g.5246718A>G
NM_000518.4(HBB):c.*110T>C
NM_000518.4:c.*110T>C
NM_000518.5:c.*110T>C

Nucleotide change:

3-UNT, T-C, +3

Links:

Genetic Testing Registry (GTR): GTR000500319; OMIM: 141900.0382; dbSNP: rs33978907

NCBI 1000 Genomes Browser:

rs33978907

Molecular consequence:

NM_000518.5:c.*110T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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
SCV000037000	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 1985)	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

SCV000037000

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 1985)

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

Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene.

Orkin SH, Cheng TC, Antonarakis SE, Kazazian HH Jr.

EMBO J. 1985 Feb;4(2):453-6.

PubMed [citation]

PMID:: 4018033
PMCID:: PMC554207

Details of each submission

From OMIM, SCV000037000.2

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

Description

In an American black patient with beta-plus-thalassemia (613985), Orkin et al. (1985) found a change from AATAAA to AACAAA in the 3-prime untranslated portion of the gene. This and several others are RNA cleavage and polyadenylation mutants.

#	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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