NM_000518.5(HBB):c.88G>A (p.Gly30Ser) AND HEMOGLOBIN TIZI-OUZOU

Germline classification:: other (1 submission)
Last evaluated:: Dec 12, 2017
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:: RCV000016882.3

Allele description [Variation Report for NM_000518.5(HBB):c.88G>A (p.Gly30Ser)]

NM_000518.5(HBB):c.88G>A (p.Gly30Ser)

Genes:

LOC106099062:HBB recombination region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

Preferred name:

NM_000518.5(HBB):c.88G>A (p.Gly30Ser)

Other names:

G29S

HGVS:

NC_000011.10:g.5226934C>T
NG_000007.3:g.70682G>A
NG_042296.1:g.465C>T
NG_046672.1:g.4869C>T
NG_059281.1:g.5138G>A
NM_000518.5:c.88G>AMANE SELECT
NP_000509.1:p.Gly30Ser
LRG_1232t1:c.88G>A
LRG_1232:g.5138G>A
LRG_1232p1:p.Gly30Ser
NC_000011.9:g.5248164C>T

Protein change:

G30S; GLY29SER

Links:

OMIM: 141900.0526; dbSNP: rs33974277

NCBI 1000 Genomes Browser:

rs33974277

Molecular consequence:

NM_000518.5:c.88G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN TIZI-OUZOU
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037152	OMIM	no assertion criteria provided	other (Dec 12, 2017)	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

SCV000037152

OMIM

no assertion criteria provided

other
(Dec 12, 2017)

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

Two new beta-chain variants: Hb Tripoli [beta26(B8)Glu-->Ala] and Hb Tizi-Ouzou [beta29(B11)Gly-->Ser].

Lacan P, Becchi M, Zanella-Cleon I, Aubry M, Ffrench M, Couprie N, Francina A.

Hemoglobin. 2004 Aug;28(3):205-12.

PubMed [citation]

PMID:: 15481887

Details of each submission

From OMIM, SCV000037152.4

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

Description

In a 66-year-old man born in Tizi-Ouzou in northeastern Algeria, Lacan et al. (2004) described abnormal hemoglobin with change of codon 29 in the first exon of the HBB gene from GGC (gly) to AGC (ser) (gly29 to ser). The carrier showed hematologic abnormalities; the presence of microcytosis and hypochromia was explained by an additional homozygous 3.7 kb alpha(+)-thalassemic deletion.

#	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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