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

Clinical significance:Pathogenic (Last evaluated: Feb 1, 1985)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000016730.28

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
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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000037000OMIMno assertion criteria providedPathogenic
(Feb 1, 1985)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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