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NM_000517.6(HBA2):c.377T>G (p.Leu126Arg) AND HEMOGLOBIN PLASENCIA

Germline classification:
other (1 submission)
Last evaluated:
Oct 13, 2016
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:
RCV000016981.11

Allele description [Variation Report for NM_000517.6(HBA2):c.377T>G (p.Leu126Arg)]

NM_000517.6(HBA2):c.377T>G (p.Leu126Arg)

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>G (p.Leu126Arg)
Other names:
L125R
HGVS:
  • NC_000016.10:g.173548T>G
  • NG_000006.1:g.34411T>G
  • NG_046165.1:g.3287T>G
  • NG_059186.1:g.1898T>G
  • NG_059271.1:g.5702T>G
  • NM_000517.6:c.377T>GMANE SELECT
  • NP_000508.1:p.Leu126Arg
  • LRG_1240t1:c.377T>G
  • LRG_1225:g.1898T>G
  • LRG_1240:g.5702T>G
  • LRG_1240p1:p.Leu126Arg
  • NC_000016.9:g.223547T>G
  • NM_000517.4:c.377T>G
  • P69905:p.Leu126Arg
Protein change:
L126R; LEU125ARG
Links:
UniProtKB: P69905#VAR_025391; OMIM: 141850.0067; dbSNP: rs41397847
NCBI 1000 Genomes Browser:
rs41397847
Molecular consequence:
  • NM_000517.6:c.377T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN PLASENCIA
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037253OMIM
no assertion criteria provided
other
(Oct 13, 2016) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu--Arg (alpha2).

Martin G, Villegas A, González FA, Ropero P, Hojas R, Polo M, Mateo M, Salvador M, Benavente C.

Hemoglobin. 2005;29(2):113-7.

PubMed [citation]
PMID:
15921163

Details of each submission

From OMIM, SCV000037253.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Spanish family residing in Plasencia with moderate microcytosis and hypochromia, Martin et al. (2005) identified heterozygosity for a CTG-to-CGG transversion at codon 125 of the HBA2 gene, resulting in a leu125-to-arg substitution.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024