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NM_000517.6(HBA2):c.380A>G (p.Asp127Gly) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 19, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003477258.1

Allele description [Variation Report for NM_000517.6(HBA2):c.380A>G (p.Asp127Gly)]

NM_000517.6(HBA2):c.380A>G (p.Asp127Gly)

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.380A>G (p.Asp127Gly)
HGVS:
  • NC_000016.10:g.173551A>G
  • NG_000006.1:g.34414A>G
  • NG_046165.1:g.3290A>G
  • NG_059186.1:g.1901A>G
  • NG_059271.1:g.5705A>G
  • NG_115661.1:g.307A>G
  • NM_000517.6:c.380A>GMANE SELECT
  • NP_000508.1:p.Asp127Gly
  • LRG_1240t1:c.380A>G
  • LRG_1225:g.1901A>G
  • LRG_1240:g.5705A>G
  • LRG_1240p1:p.Asp127Gly
  • NC_000016.9:g.223550A>G
  • NM_000517.4:c.380A>G
Protein change:
D127G
Molecular consequence:
  • NM_000517.6:c.380A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004219831Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Aug 19, 2023) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.

Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM.

Hemoglobin. 2016;40(2):75-84. doi: 10.3109/03630269.2015.1113990. Epub 2015 Dec 4. Review.

PubMed [citation]
PMID:
26635043

Alteration of an intersubunit contact in hemoglobin variants: comparative study of modifications at position alpha 126 Asp (H9).

Kister J, Griffon N, Henthorn JS, Marden MC, Poyart C, Papassotiriou I, Promé D, Galactéros F, Davies SC, Wajcman H.

C R Acad Sci III. 1997 Nov;320(11):849-55.

PubMed [citation]
PMID:
9499936
See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004219831.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The c.380A>G (p.Asp127Gly) variant in the alpha2-globin gene (HBA2) has been reported in the published literature in an individual with alpha thalassemia trait (PMID: 9499936 (1997)) as well as silent carriers (PMIDs: 9499936 (1997), 26635043 (2016)). Additionally, the variant results in a 7-fold increase in oxygen affinity and reduction in cooperativity (PMID: 9499936 (1997)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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

Last Updated: Sep 1, 2024