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NM_000517.6(HBA2):c.69C>T (p.Gly23=) AND Alpha-thalassemia, Dutch type

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2004
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:
RCV000016977.26

Allele description [Variation Report for NM_000517.6(HBA2):c.69C>T (p.Gly23=)]

NM_000517.6(HBA2):c.69C>T (p.Gly23=)

Genes:
LOC106804612:hemoglobin subunit alpha 2 recombination region [Gene]
HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000517.6(HBA2):c.69C>T (p.Gly23=)
Other names:
G22G
HGVS:
  • NC_000016.10:g.172981C>T
  • NG_000006.1:g.33844C>T
  • NG_046165.1:g.2720C>T
  • NG_059186.1:g.1331C>T
  • NG_059271.1:g.5135C>T
  • NM_000517.6:c.69C>TMANE SELECT
  • NP_000508.1:p.Gly23=
  • LRG_1240t1:c.69C>T
  • HBA2:c.69C>T
  • LRG_1225:g.1331C>T
  • LRG_1240:g.5135C>T
  • LRG_1240p1:p.Gly23=
  • NC_000016.9:g.222980C>T
  • NM_000517.4:c.69C>T
Protein change:
GLY22GLY
Links:
HBVAR: 2514; OMIM: 141850.0064; dbSNP: rs63751457
NCBI 1000 Genomes Browser:
rs63751457
Molecular consequence:
  • NM_000517.6:c.69C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Alpha-thalassemia, Dutch type
Synonyms:
Alpha plus thalassemia
Identifiers:
MedGen: C1456873

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037249OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 2004) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

An alpha-thalassemia phenotype in a Dutch Hindustani, caused by a new point mutation that creates an alternative splice donor site in the first exon of the alpha2-globin gene.

Harteveld CL, Wijermans PW, van Delft P, Rasp E, Haak HL, Giordano PC.

Hemoglobin. 2004 Aug;28(3):255-9.

PubMed [citation]
PMID:
15481895

Details of each submission

From OMIM, SCV000037249.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 79-year-old woman of Surinamese-Hindustani origin with moderate microcytic hypochromic anemia, Harteveld et al. (2004) identified a silent mutation at codon 22 of the HBA2 gene, GGC (gly) to GGT (gly) (gly22 to gly), resulting in a splice donor site consensus sequence between codons 22 and 23. The abnormally spliced mRNA led to a premature termination between codons 48 and 49. The presence of a downstream intron was thought to induce the intracellular degradation of the affected mRNA, through the pathway of nonsense-mediated decay (NMD), thus explaining the alpha(+)-thalassemia phenotype of the patient. The C-to-T transition was said to be the first reported mutation creating a splice donor site in 1 of the alpha-globin genes.

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

Last Updated: May 12, 2024