NM_000518.5(HBB):c.59A>G (p.Asn20Ser) AND Beta-Malay-thalassemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 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:: RCV000016481.28

Allele description [Variation Report for NM_000518.5(HBB):c.59A>G (p.Asn20Ser)]

NM_000518.5(HBB):c.59A>G (p.Asn20Ser)

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.59A>G (p.Asn20Ser)

Other names:

N19S; 19A>G

HGVS:

NC_000011.10:g.5226963T>C
NG_000007.3:g.70653A>G
NG_042296.1:g.494T>C
NG_046672.1:g.4898T>C
NG_059281.1:g.5109A>G
NM_000518.5:c.59A>GMANE SELECT
NP_000509.1:p.Asn20Ser
LRG_1232t1:c.59A>G
LRG_1232:g.5109A>G
LRG_1232p1:p.Asn20Ser
NC_000011.9:g.5248193T>C
NM_000518.4:c.59A>G
P68871:p.Asn20Ser
c.56A>G
p.Asn19Ser

Protein change:

N20S; ASN19SER

Links:

UniProtKB: P68871#VAR_002888; OMIM: 141900.0168; dbSNP: rs33972047

NCBI 1000 Genomes Browser:

rs33972047

Molecular consequence:

NM_000518.5:c.59A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Beta-Malay-thalassemia
Identifiers:: MedGen: C4017510

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036749	OMIM	no assertion criteria provided	Pathogenic (May 1, 1989)	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

SCV000036749

OMIM

no assertion criteria provided

Pathogenic
(May 1, 1989)

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

Molecular characterization of beta-globin gene mutations in Malay patients with Hb E-beta-thalassaemia and thalassaemia major.

Yang KG, Kutlar F, George E, Wilson JB, Kutlar A, Stoming TA, Gonzalez-Redondo JM, Huisman TH.

Br J Haematol. 1989 May;72(1):73-80.

PubMed [citation]

PMID:: 2736244

Details of each submission

From OMIM, SCV000036749.2

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

Description

Yang et al. (1989) found an A-to-G change in codon 19 resulting in beta-plus-thalassemia (613985) in a Malaysian.

#	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: Feb 14, 2024

ClinVar

Relating variation to medicine