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NM_000558.5(HBA1):c.283_300+3dup AND Alpha-thalassemia, Dutch type

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2001
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:
RCV000017225.27

Allele description [Variation Report for NM_000558.5(HBA1):c.283_300+3dup]

NM_000558.5(HBA1):c.283_300+3dup

Genes:
LOC106804613:hemoglobin subunit alpha 1 recombination region [Gene]
HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000558.5(HBA1):c.283_300+3dup
HGVS:
  • NC_000016.10:g.177116_177136dup
  • NG_000006.1:g.37979_37999dup
  • NG_046166.1:g.2599_2619dup
  • NG_059186.1:g.5466_5486dup
  • NM_000558.5:c.283_300+3dupMANE SELECT
  • LRG_1225t1:c.283_300+3dup
  • LRG_1225:g.5466_5486dup
  • NC_000016.9:g.227115_227135dup
  • NM_000558.5:c.280_300dupMANE SELECT
Links:
OMIM: 141800.0206; dbSNP: rs1902161681
NCBI 1000 Genomes Browser:
rs1902161681
Molecular consequence:
  • NM_000558.5:c.283_300+3dup - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000037497OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 2001) 		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

Identification of two new alpha-thalassemia mutations in exon 2 of the alpha1-globin gene.

Waye JS, Eng B, Patterson M, Carcao MD, Chang L, Olivieri NF, Chui DH.

Hemoglobin. 2001 Nov;25(4):391-6.

PubMed [citation]
PMID:
11791872

Details of each submission

From OMIM, SCV000037497.1

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

Description

In a patient of Iranian descent with the hematologic profile of alpha-plus-thalassemia characterized by mild microcytosis, Waye et al. (2001) found a 21-bp insertion/duplication that gave rise to a predicted alpha-globin chain containing a duplication of amino acid residues 93-99.

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

Last Updated: Feb 28, 2024