NM_000558.3(HBA1):c.83A>G (p.Glu28Gly) AND HEMOGLOBIN FORT WORTH

Germline classification:: other (1 submission)
Last evaluated:: Jul 20, 2016
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:: RCV000017024.3

Allele description [Variation Report for NM_000558.3(HBA1):c.83A>G (p.Glu28Gly)]

NM_000558.3(HBA1):c.83A>G (p.Glu28Gly)

Genes:

LOC106804613:hemoglobin subunit alpha 1 recombination region [Gene]
HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000558.3(HBA1):c.83A>G (p.Glu28Gly)

Other names:

E27G

HGVS:

NC_000016.10:g.176799A>G
NG_000006.1:g.37662A>G
NG_046166.1:g.2282A>G
NG_059186.1:g.5149A>G
NM_000558.5:c.83A>GMANE SELECT
NP_000549.1:p.Glu28Gly
LRG_1225t1:c.83A>G
LRG_1225:g.5149A>G
LRG_1225p1:p.Glu28Gly
NC_000016.9:g.226798A>G
P69905:p.Glu28Gly

Protein change:

E28G; GLU27GLY

Links:

HBVAR: 41; UniProtKB: P69905#VAR_002749; OMIM: 141800.0037; dbSNP: rs33964507

NCBI 1000 Genomes Browser:

rs33964507

Molecular consequence:

NM_000558.5:c.83A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN FORT WORTH
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037296	OMIM	no assertion criteria provided	other (Jul 20, 2016)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 5122655, 3839776

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037296

OMIM

no assertion criteria provided

other
(Jul 20, 2016)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

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

Hb Ft. Worth: a27Glu changed to Gly(B8). A variant present in unusually low concentration.

Schneider RG, Brimhall B, Jones RT, Bryant R, Mitchell CB, Goldberg AI.

Biochim Biophys Acta. 1971 Aug 27;243(2):164-9. No abstract available.

PubMed [citation]

PMID:: 5122655

Hb Fort Worth or alpha2 27(B8)Glu----Gly beta2 in a black family from Canada.

Carstairs KC, Raulfs A, Kutlar A, Chen SS, Webber BB, Wilson JB, Huisman TH.

Hemoglobin. 1985;9(2):201-5. No abstract available.

PubMed [citation]

PMID:: 3839776

Details of each submission

From OMIM, SCV000037296.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

This variant was described in 2 black families. Unusually low (5%) concentration was found in heterozygotes, perhaps because of decreased ability of the abnormal alpha chain to form dimers with beta chains. See Schneider et al. (1971) and Carstairs et al. (1985).

#	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: Apr 23, 2022

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