NM_000517.6(HBA2):c.1A>G (p.Met1Val) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 4, 2020
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:: RCV001284141.1

Allele description [Variation Report for NM_000517.6(HBA2):c.1A>G (p.Met1Val)]

NM_000517.6(HBA2):c.1A>G (p.Met1Val)

Genes:

LOC106804612:hemoglobin subunit alpha 2 recombination region [Gene]
HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_000517.6(HBA2):c.1A>G (p.Met1Val)

Other names:

Init CD ATG>GTG

HGVS:

NC_000016.10:g.172913A>G
NG_000006.1:g.33776A>G
NG_046165.1:g.2652A>G
NG_059186.1:g.1263A>G
NG_059271.1:g.5067A>G
NM_000517.6:c.1A>GMANE SELECT
NP_000508.1:p.Met1Val
LRG_1240t1:c.1A>G
LRG_1225:g.1263A>G
LRG_1240:g.5067A>G
LRG_1240p1:p.Met1Val
NC_000016.9:g.222912A>G
NM_000517.4:c.1A>G

Protein change:

M1V; MET1VAL

Links:

OMIM: 141850.0022; dbSNP: rs121909803

NCBI 1000 Genomes Browser:

rs121909803

Molecular consequence:

NM_000517.6:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_000517.6:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001469767	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Aug 4, 2020)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 3620699, 18473243, 31933393, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001469767

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(Aug 4, 2020)

unknown

clinical testing

PubMed (4)
[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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

An alpha-globin gene initiation codon mutation in a black family with HbH disease.

Olivieri NF, Chang LS, Poon AO, Michelson AM, Orkin SH.

Blood. 1987 Sep;70(3):729-32.

PubMed [citation]

PMID:: 3620699

Molecular basis of alpha-thalassemia in Algeria.

Mesbah-Amroun H, Rouabhi F, Ducrocq R, Elion J.

Hemoglobin. 2008;32(3):273-8. doi: 10.1080/03630260802004301.

PubMed [citation]

PMID:: 18473243

See all PubMed Citations (4)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001469767.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

The variant disrupts the natural start codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data.

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

Last Updated: May 12, 2024

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