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NM_000517.6(HBA2):c.91G>C (p.Glu31Gln) AND HEMOGLOBIN G (HONG KONG)

Germline classification:
other (1 submission)
Last evaluated:
May 21, 2018
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:
RCV000016964.4

Allele description [Variation Report for NM_000517.6(HBA2):c.91G>C (p.Glu31Gln)]

NM_000517.6(HBA2):c.91G>C (p.Glu31Gln)

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.91G>C (p.Glu31Gln)
Other names:
E30Q
HGVS:
  • NC_000016.10:g.173003G>C
  • NG_000006.1:g.33866G>C
  • NG_046165.1:g.2742G>C
  • NG_059186.1:g.1353G>C
  • NG_059271.1:g.5157G>C
  • NM_000517.6:c.91G>CMANE SELECT
  • NP_000508.1:p.Glu31Gln
  • LRG_1240t1:c.91G>C
  • LRG_1225:g.1353G>C
  • LRG_1240:g.5157G>C
  • LRG_1240p1:p.Glu31Gln
  • NC_000016.9:g.223002G>C
Protein change:
E31Q; GLU30GLN
Links:
OMIM: 141850.0054; dbSNP: rs111033605
NCBI 1000 Genomes Browser:
rs111033605
Molecular consequence:
  • NM_000517.6:c.91G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN G (HONG KONG)
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037236OMIM
no assertion criteria provided
other
(May 21, 2018) 		germlineliterature only

PubMed (6)
[See all records that cite these PMIDs]

Swenson, R. T., Hill, R. L., Lehmann, H., Jim, R. T. S. A chemical abnormality in hemoglobin G from Chinese individuals. J. Biol. Chem. 237: 1517-1520, 1962.

Help

Summary from all submissions

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

Citations

PubMed

Hemoglobin sealy (alpha 2-47His-beta 2): a new variant in a Jewish family.

Schneider RG, Ueda S, Alperin JB, Brimhall B, Jones RT.

Am J Hum Genet. 1968 Mar;20(2):151-6. No abstract available.

PubMed [citation]
PMID:
5643179
PMCID:
PMC1706261

Haemoglobin Hasharon.

Lehmann H, Vella F.

Humangenetik. 1974;25(3):237-40. No abstract available.

PubMed [citation]
PMID:
4448454
See all PubMed Citations (6)

Details of each submission

From OMIM, SCV000037236.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (6)

Description

See Schneider and Jim (1961), Lehmann (1962), Swenson et al. (1962), and Lie-Injo et al. (1979). The original Hb G (Chinese) variant was thought to have a beta-chain substitution (Gammack et al., 1961).

Chang et al. (2002) observed this variant in a Taiwanese family and found that it was caused by a G-to-C substitution at the first base of codon 30 (GAG-to-CAG) of the HBA2 gene, resulting in the substitution of a glutamic acid residue by glutamine (E30Q). The mutation created a PstI restriction site and abolished an authentic BstNI site.

Shih et al. (2003) identified Hb G (Chinese) with alpha-thalassemia-1 of the Thai type in a Taiwanese family.

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

Last Updated: Apr 23, 2022