NM_000518.5(HBB):c.2T>A (p.Met1Lys) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 31, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000985744.2

Allele description [Variation Report for NM_000518.5(HBB):c.2T>A (p.Met1Lys)]

NM_000518.5(HBB):c.2T>A (p.Met1Lys)

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>A (p.Met1Lys)

Other names:

Init CD ATG>AAG

HGVS:

NC_000011.10:g.5227020A>T
NG_000007.3:g.70596T>A
NG_042296.1:g.551A>T
NG_046672.1:g.4955A>T
NG_059281.1:g.5052T>A
NM_000518.5:c.2T>AMANE SELECT
NP_000509.1:p.Met1Lys
LRG_1232t1:c.2T>A
LRG_1232:g.5052T>A
LRG_1232p1:p.Met1Lys
NC_000011.9:g.5248250A>T
NM_000518.4:c.2T>A

Protein change:

M1K

Links:

dbSNP: rs33941849

NCBI 1000 Genomes Browser:

rs33941849

Molecular consequence:

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

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001134221	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Aug 31, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16114187, 9371531, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001134221

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(Aug 31, 2018)

germline

clinical testing

PubMed (3)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A mutation of the beta-globin gene initiation codon, ATG-->AAG, found in a French Caucasian man.

Lacan P, Aubry M, Couprie N, Francina A.

Hemoglobin. 2005;29(3):225-8.

PubMed [citation]

PMID:: 16114187

De novo mutation of the beta-globin gene initiation codon (ATG-->AAG) in a Northern European boy.

Waye JS, Eng B, Patterson M, Barr RD, Chui DH.

Am J Hematol. 1997 Nov;56(3):179-82. Review.

PubMed [citation]

PMID:: 9371531

See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001134221.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The variant disrupts the natural start codon, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and not found in general population data.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 3, 2023

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