NM_000517.6(HBA2):c.*92A>G AND Hemoglobin H disease, nondeletional

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 1992
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:: RCV000022604.12

Allele description [Variation Report for NM_000517.6(HBA2):c.*92A>G]

NM_000517.6(HBA2):c.*92A>G

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.*92A>G

HGVS:

NC_000016.10:g.173692A>G
NG_000006.1:g.34555A>G
NG_046165.1:g.3431A>G
NG_059186.1:g.2042A>G
NG_059271.1:g.5846A>G
NM_000517.6:c.*92A>GMANE SELECT
LRG_1240t1:c.*92A>G
LRG_1225:g.2042A>G
LRG_1240:g.5846A>G
NC_000016.9:g.223691A>G
NM_000517.4:c.*92A>G

Nucleotide change:

3-UNT, A-G, +4

Links:

OMIM: 141850.0024; dbSNP: rs63750067

NCBI 1000 Genomes Browser:

rs63750067

Molecular consequence:

NM_000517.6:c.*92A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

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

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prostaglandin reductase 2 isoform X1 [Macaca mulatta]
prostaglandin reductase 2 isoform X1 [Macaca mulatta]
gi|966955726|ref|XP_014999565.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000043893	OMIM	no assertion criteria provided	Pathogenic (Apr 1, 1992)	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

SCV000043893

OMIM

no assertion criteria provided

Pathogenic
(Apr 1, 1992)

germline

literature only

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

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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

Hb H disease in a Turkish family resulting from the interaction of a deletional alpha-thalassaemia-1 and a newly discovered poly A mutation.

Yüregir GT, Aksoy K, Cürük MA, Dikmen N, Fei YJ, Baysal E, Huisman TH.

Br J Haematol. 1992 Apr;80(4):527-32.

PubMed [citation]

PMID:: 1581238

Details of each submission

From OMIM, SCV000043893.1

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

Description

In a large family from southern Turkey, Yuregir et al. (1992) observed nondeletional alpha-thalassemia-2 resulting from an A-to-G mutation at nucleotide 4 in the polyadenylation signal of the HBA2 gene: AATAAA to AATGAA. The same A-to-G replacement was present in the alpha-1 pseudogene. The mutation must cause a considerable alpha-chain deficiency as evidenced by the hematologic data in 5 members of a family with Hb H disease (613978) due to compound heterozygosity for alpha-thalassemia-1 and the newly discovered poly(A) mutation.

#	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 16, 2024

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