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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 26, 2021
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:
RCV001826473.9

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:
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
SCV002093849Natera, Inc.
no assertion criteria provided
Pathogenic
(Mar 26, 2021) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002093849.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024