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NM_000517.6(HBA2):c.377T>A (p.Leu126Gln) AND alpha Thalassemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 25, 2019
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:
RCV001078247.1

Allele description [Variation Report for NM_000517.6(HBA2):c.377T>A (p.Leu126Gln)]

NM_000517.6(HBA2):c.377T>A (p.Leu126Gln)

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.377T>A (p.Leu126Gln)
Other names:
CD 125 CTG>CAG [Leu>Gln]
HGVS:
  • NC_000016.10:g.173548T>A
  • NG_000006.1:g.34411T>A
  • NG_046165.1:g.3287T>A
  • NG_059186.1:g.1898T>A
  • NG_059271.1:g.5702T>A
  • NM_000517.6:c.377T>AMANE SELECT
  • NP_000508.1:p.Leu126Gln
  • LRG_1240t1:c.377T>A
  • LRG_1225:g.1898T>A
  • LRG_1240:g.5702T>A
  • LRG_1240p1:p.Leu126Gln
  • NC_000016.9:g.223547T>A
Protein change:
L126Q
Links:
dbSNP: rs41397847
NCBI 1000 Genomes Browser:
rs41397847
Molecular consequence:
  • NM_000517.6:c.377T>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001244389The ITHANET community portal, The Cyprus Institute of Neurology and Genetics
no assertion criteria provided
Pathogenic
(Nov 25, 2019) 		germlinecuration

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Diversity of alpha-globin mutations and clinical presentation of alpha-thalassemia in Israel.

Oron-Karni V, Filon D, Shifrin Y, Fried E, Pogrebijsky G, Oppenheim A, Rund D.

Am J Hematol. 2000 Nov;65(3):196-203.

PubMed [citation]
PMID:
11074535

Details of each submission

From The ITHANET community portal, The Cyprus Institute of Neurology and Genetics, SCV001244389.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024