NM_000518.5(HBB):c.82G>T (p.Ala28Ser) AND Beta-Knossos-thalassemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1989
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:: RCV000016441.29

Allele description [Variation Report for NM_000518.5(HBB):c.82G>T (p.Ala28Ser)]

NM_000518.5(HBB):c.82G>T (p.Ala28Ser)

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.82G>T (p.Ala28Ser)

Other names:

A27S; cd27 G>T; CD 27 GCC>TCC [Ala>Ser]

HGVS:

NC_000011.10:g.5226940C>A
NG_000007.3:g.70676G>T
NG_042296.1:g.471C>A
NG_046672.1:g.4875C>A
NG_059281.1:g.5132G>T
NM_000518.5:c.82G>TMANE SELECT
NP_000509.1:p.Ala28Ser
LRG_1232t1:c.82G>T
LRG_1232:g.5132G>T
LRG_1232p1:p.Ala28Ser
NC_000011.9:g.5248170C>A
NM_000518.4:c.82G>T
P68871:p.Ala28Ser
p.Ala27Ser

Protein change:

A28S; ALA27SER

Links:

Genetic Testing Registry (GTR): GTR000500319; UniProtKB: P68871#VAR_002910; OMIM: 141900.0149; dbSNP: rs35424040

NCBI 1000 Genomes Browser:

rs35424040

Molecular consequence:

NM_000518.5:c.82G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Beta-Knossos-thalassemia
Identifiers:: MedGen: C4017494

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036709	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1989)	germline	literature only	PubMed (5) [See all records that cite these PMIDs] 6668188, 6469698, 3114175, 2467892, 6733281 Arous, N., Galacteros, F., Fessas, P., Loukopoulos, D., Blouquit, Y., Komis, G., Sellaye, M., Boussiou, M., Rosa, J. Hemoglobin Knossos, beta27 ala-to-ser (B9): a new hemoglobinopathy presenting as a silent beta-thalassemia. (Abstract) Blood 60: 51A, 1982.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036709

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1989)

germline

literature only

PubMed (5)
[See all records that cite these PMIDs]

Arous, N., Galacteros, F., Fessas, P., Loukopoulos, D., Blouquit, Y., Komis, G., Sellaye, M., Boussiou, M., Rosa, J. Hemoglobin Knossos, beta27 ala-to-ser (B9): a new hemoglobinopathy presenting as a silent beta-thalassemia. (Abstract) Blood 60: 51A, 1982.

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

Silent beta-thalassemia associated with Hb Knossos beta 27 (B9) Ala replaced by Ser in Algeria.

Rouabhi F, Chardin P, Boissel JP, Beghoul F, Labie D, Benabadji M.

Hemoglobin. 1983;7(6):555-61. No abstract available.

PubMed [citation]

PMID:: 6668188

Two new cases of heterozygosity for hemoglobin Knossos alpha 2 beta 2 27 Ala----Ser detected in the French West Indies and Algeria.

Galacteros F, Garin JD, Monplaisir N, Namoune S, Arous N, Blouquit Y, Mamalaki A, Tulliez M, Ouka M, Goossens M, et al.

Hemoglobin. 1984;8(3):215-28.

PubMed [citation]

PMID:: 6469698

See all PubMed Citations (5)

Details of each submission

From OMIM, SCV000036709.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (5)

Description

See Arous et al. (1982), Rouabhi et al. (1983), Galacteros et al. (1984), Elwan et al. (1987), and Kutlar et al. (1989). Hemoglobin Knossos is a cause of beta-thalassemia (613985), as is hemoglobin E. Orkin et al. (1984) isolated the beta(Knossos) gene and examined its expression in HeLa cells. Using a cryptic splice sequence that is enhanced by the Knossos substitution, they found that some beta(Knossos) transcripts were abnormally processed. In addition to Hb E, a silent substitution at beta 24 causes thalassemia by abnormal RNA processing.

#	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 29, 2024

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