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NM_000517.6(HBA2):c.320T>G (p.Leu107Arg) AND alpha Thalassemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 2, 2022
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:
RCV004548630.1

Allele description [Variation Report for NM_000517.6(HBA2):c.320T>G (p.Leu107Arg)]

NM_000517.6(HBA2):c.320T>G (p.Leu107Arg)

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.320T>G (p.Leu107Arg)
HGVS:
  • NC_000016.10:g.173491T>G
  • NG_000006.1:g.34354T>G
  • NG_046165.1:g.3230T>G
  • NG_059186.1:g.1841T>G
  • NG_059271.1:g.5645T>G
  • NG_115661.1:g.247T>G
  • NM_000517.6:c.320T>GMANE SELECT
  • NP_000508.1:p.Leu107Arg
  • LRG_1240t1:c.320T>G
  • LRG_1225:g.1841T>G
  • LRG_1240:g.5645T>G
  • LRG_1240p1:p.Leu107Arg
  • NC_000016.9:g.223490T>G
Protein change:
L107R
Molecular consequence:
  • NM_000517.6:c.320T>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
SCV004102627Department of Medical Genomics, Royal Prince Alfred Hospital
no assertion criteria provided
Pathogenic
(Sep 2, 2022) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Department of Medical Genomics, Royal Prince Alfred Hospital, SCV004102627.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided

Description

This variant was detected in a male patient with hypochromic microcytic anaemia (Hb 131-141g/L, MCV 75-76fL, MCH 24.2-24.5pg). Haemoglobin electrophoresis showed 2 abnormal bands after the A2 position. This c.320T>G variant, leading to a missense change p.(Leu107Arg) in the haemoglobin alpha 2 subunit (HBA2), has not been reported in literature. This variant has not been observed in population database. A different missense variant at the same amino acid position, p.(Leu106Pro) in the homologous haemoglobin alpha 1 subunit (HBA1), also known as Hb Charlieu, also causes microcytosis and hypochromia without anaaemia.

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

Last Updated: Sep 1, 2024