NM_000517.6(HBA2):c.301-1G>A AND Hemoglobin H disease, nondeletional

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 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:: RCV000022607.4

Allele description [Variation Report for NM_000517.6(HBA2):c.301-1G>A]

NM_000517.6(HBA2):c.301-1G>A

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.301-1G>A

Other names:

IVS II-142 G>A

HGVS:

NC_000016.10:g.173471G>A
NG_000006.1:g.34334G>A
NG_046165.1:g.3210G>A
NG_059186.1:g.1821G>A
NG_059271.1:g.5625G>A
NG_115661.1:g.227G>A
NM_000517.6:c.301-1G>AMANE SELECT
LRG_1240t1:c.301-1G>A
LRG_1225:g.1821G>A
LRG_1240:g.5625G>A
NC_000016.9:g.223470G>A
NM_000517.4:c.301-1G>A

Nucleotide change:

IVS2AS, G-A, -1

Links:

OMIM: 141850.0044; dbSNP: rs587776827

NCBI 1000 Genomes Browser:

rs587776827

Molecular consequence:

NM_000517.6:c.301-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Hemoglobin H disease, nondeletional
Identifiers:: MedGen: C3279561

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000043896	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 2001)	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

SCV000043896

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 2001)

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 splice acceptor site mutation of the alpha2-globin gene causing alpha-thalassemia.

Noguera NI, González FA, Dávoli RA, Milani AC, Villegas A.

Hemoglobin. 2001 Aug;25(3):311-5.

PubMed [citation]

PMID:: 11570724

Details of each submission

From OMIM, SCV000043896.1

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

Description

In an Argentinian patient with Hb H disease (613978) and her daughter, Noguera et al. (2001) found a splice acceptor consensus point mutation changing AG to AA in intron 2. Their patient was of Arab and Italian ancestry. The phenotypic expression observed in the heterozygote, namely microcytic erythrocytes, slightly hypochromic, was rather more severe than in individuals with a deleted gene. This observation was thought to be in accord with the fact that the mutation affects HBA2, whose level of expression is 3 times higher than that of the HBA1 gene.

#	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: Jun 10, 2023

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