NM_000518.5(HBB):c.2T>G (p.Met1Arg) AND Beta zero thalassemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 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:: RCV000016691.35

Allele description [Variation Report for NM_000518.5(HBB):c.2T>G (p.Met1Arg)]

NM_000518.5(HBB):c.2T>G (p.Met1Arg)

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.2T>G (p.Met1Arg)

Other names:

Init CD ATG>AGG

HGVS:

NC_000011.10:g.5227020A>C
NG_000007.3:g.70596T>G
NG_042296.1:g.551A>C
NG_046672.1:g.4955A>C
NG_059281.1:g.5052T>G
NM_000518.5:c.2T>GMANE SELECT
NP_000509.1:p.Met1Arg
LRG_1232t1:c.2T>G
LRG_1232:g.5052T>G
LRG_1232p1:p.Met1Arg
NC_000011.9:g.5248250A>C
NM_000518.4:c.2T>G
p.?
p.Met1?

Protein change:

M1R; MET1ARG

Links:

Genetic Testing Registry (GTR): GTR000500319; OMIM: 141900.0344; dbSNP: rs33941849

NCBI 1000 Genomes Browser:

rs33941849

Molecular consequence:

NM_000518.5:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_000518.5:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Beta zero thalassemia
Identifiers:: MedGen: C0271980

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036961	OMIM	no assertion criteria provided	Pathogenic (Jun 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

SCV000036961

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 1992)

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

Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene.

Kazazian HH Jr, Dowling CE, Hurwitz RL, Coleman M, Stopeck A, Adams JG 3rd.

Blood. 1992 Jun 1;79(11):3014-8.

PubMed [citation]

PMID:: 1586746

Details of each submission

From OMIM, SCV000036961.5

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

Description

This initiator codon mutant, ATG to AGG, was found in Chinese individuals by Kazazian (1990).

#	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: Oct 26, 2024

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