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NM_000517.6(HBA2):c.73T>G (p.Tyr25Asp) AND alpha Thalassemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 2, 2023
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:
RCV003110192.3

Allele description [Variation Report for NM_000517.6(HBA2):c.73T>G (p.Tyr25Asp)]

NM_000517.6(HBA2):c.73T>G (p.Tyr25Asp)

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.73T>G (p.Tyr25Asp)
HGVS:
  • NC_000016.10:g.172985T>G
  • NG_000006.1:g.33848T>G
  • NG_046165.1:g.2724T>G
  • NG_059186.1:g.1335T>G
  • NG_059271.1:g.5139T>G
  • NM_000517.6:c.73T>GMANE SELECT
  • NP_000508.1:p.Tyr25Asp
  • LRG_1240t1:c.73T>G
  • LRG_1225:g.1335T>G
  • LRG_1240:g.5139T>G
  • LRG_1240p1:p.Tyr25Asp
  • NC_000016.9:g.222984T>G
Protein change:
Y25D
Links:
dbSNP: rs281864821
NCBI 1000 Genomes Browser:
rs281864821
Molecular consequence:
  • NM_000517.6:c.73T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003761544Department of Medical Genomics, Royal Prince Alfred Hospital
no assertion criteria provided
Pathogenic
(Feb 2, 2023) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Europeanunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Medical Genomics, Royal Prince Alfred Hospital, SCV003761544.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European1not providednot providedclinical testingnot provided

Description

This missense variant is detected in an adult patient with normal haemoglobin level, but with microcytic, hypochromic red blood cells (MCV 75 ref. 80-100; MCH 24.5 ref 27-32). Haemoglobin electrophoresis and iron studies were normal. Normal bilirubin level. No deletion was detected in the haemoglobin alpha locus, and no mutation was detected in the haemoglobin beta gene. The variant is reported on the HbVar database as Hb Creve Coeur, and is reported to be mildly stable with normal oxygen affinity. A different missense variant, p.(Tyr25His), known as Hb Luxembourg, is reported as a mildly unstable variant haemoglobin (PMID: 2599879, 1917540).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 1, 2024