NM_000517.6(HBA2):c.46G>T (p.Gly16Cys) AND alpha Thalassemia

Germline classification:: Likely pathogenic (1 submission)
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:: RCV002243538.1

Allele description [Variation Report for NM_000517.6(HBA2):c.46G>T (p.Gly16Cys)]

NM_000517.6(HBA2):c.46G>T (p.Gly16Cys)

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.46G>T (p.Gly16Cys)

HGVS:

NC_000016.10:g.172958G>T
NG_000006.1:g.33821G>T
NG_046165.1:g.2697G>T
NG_059186.1:g.1308G>T
NG_059271.1:g.5112G>T
NM_000517.6:c.46G>TMANE SELECT
NP_000508.1:p.Gly16Cys
LRG_1240t1:c.46G>T
LRG_1225:g.1308G>T
LRG_1240:g.5112G>T
LRG_1240p1:p.Gly16Cys
NC_000016.9:g.222957G>T
NM_000517.4:c.46G>T

Protein change:

G16C

Links:

dbSNP: rs281864811

NCBI 1000 Genomes Browser:

rs281864811

Molecular consequence:

NM_000517.6:c.46G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: alpha Thalassemia
Synonyms:: A-Thalassemia; Alpha thalassemia spectrum
Identifiers:: MONDO: MONDO:0011399; MedGen: C0002312; Orphanet: 846; OMIM: 604131

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002501000	Thalassemia Center, San Luigi University Hospital	no assertion criteria provided	Likely pathogenic	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002501000

Thalassemia Center, San Luigi University Hospital

no assertion criteria provided

Likely pathogenic

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	unknown	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Thalassemia Center, San Luigi University Hospital, SCV002501000.1

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

Description

Patient heterozygous, healthy Hb 126 g/dL MCV 83 fL MCH 31.5 pg RBC 4.8 10^12/L HbX 13.1% at capillary electrophoresis (Hb Variant migrates in zone 13) HbA2 2.5 Cation exchange HPLC: no separation of HbX and HbA

Description

The HBA2:c.46G>T is believed to be pathogenic because it produces an hemoglobin variant (named Hb Orbassano), that can be detected by capillary electrophoresis (Hb Variant migrates in zone 13)

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

Last Updated: May 12, 2024

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