NM_000517.6(HBA2):c.124A>G (p.Thr42Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 9, 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:: RCV001000801.8

Allele description [Variation Report for NM_000517.6(HBA2):c.124A>G (p.Thr42Ala)]

NM_000517.6(HBA2):c.124A>G (p.Thr42Ala)

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.124A>G (p.Thr42Ala)

HGVS:

NC_000016.10:g.173153A>G
NG_000006.1:g.34016A>G
NG_046165.1:g.2892A>G
NG_059186.1:g.1503A>G
NG_059271.1:g.5307A>G
NM_000517.6:c.124A>GMANE SELECT
NP_000508.1:p.Thr42Ala
LRG_1240t1:c.124A>G
LRG_1225:g.1503A>G
LRG_1240:g.5307A>G
LRG_1240p1:p.Thr42Ala
NC_000016.9:g.223152A>G

Protein change:

T42A

Links:

dbSNP: rs281860654

NCBI 1000 Genomes Browser:

rs281860654

Molecular consequence:

NM_000517.6:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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
SCV001157862	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Sep 9, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001157862

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Sep 9, 2018)

germline

clinical testing

Citation Link

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001157862.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The HBA2 c.124A>G; Thr41Ala variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The threonine at codon 41 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious, although these predictions are low confidence for globins. Due to limited information, the clinical significance of the Thr41Ala variant is uncertain at this time.

#	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: Mar 4, 2023

ClinVar

Relating variation to medicine