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NM_000517.6(HBA2):c.349G>A (p.Glu117Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 28, 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:
RCV003388105.1

Allele description [Variation Report for NM_000517.6(HBA2):c.349G>A (p.Glu117Lys)]

NM_000517.6(HBA2):c.349G>A (p.Glu117Lys)

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.349G>A (p.Glu117Lys)
HGVS:
  • NC_000016.10:g.173520G>A
  • NG_000006.1:g.34383G>A
  • NG_046165.1:g.3259G>A
  • NG_059186.1:g.1870G>A
  • NG_059271.1:g.5674G>A
  • NM_000517.4:c.349G>A
  • NM_000517.6:c.349G>AMANE SELECT
  • NP_000508.1:p.Glu117Lys
  • LRG_1240t1:c.349G>A
  • LRG_1225:g.1870G>A
  • LRG_1240:g.5674G>A
  • LRG_1240p1:p.Glu117Lys
  • NC_000016.9:g.223519G>A
Protein change:
E117K
Links:
dbSNP: rs33987053
NCBI 1000 Genomes Browser:
rs33987053
Molecular consequence:
  • NM_000517.6:c.349G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004100236Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Sep 28, 2023) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Coinheritance of Sicilian (δβ)(0)-Thalassemia and Two Rare Hemoglobin Variants: A Complex Case of Hemoglobinopathy.

Eftekhari H, Pilehchian Langroudi M, Banihashemi A, Azizi M, Kamangar RY, Akhavan-Niaki H.

Indian J Clin Biochem. 2018 Apr;33(2):231-234. doi: 10.1007/s12291-017-0676-z. Epub 2017 Jul 5.

PubMed [citation]
PMID:
29651217
PMCID:
PMC5891461

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004100236.1

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

Description

Variant summary: HBA2 c.349G>A (p.Glu117Lys) results in a conservative amino acid change located in the Globin (IPR000971) of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 247268 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.349G>A has been reported in the literature in individuals affected with Thalassemia (Eftekhari_2018). This report does not provide unequivocal conclusions about association of the variant with Alpha Thalassemia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 29651217). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Dec 24, 2023