IthaID: 3576


Names and Sequences

Functionality: Neutral polymorphism Pathogenicity: Benign / Likely Benign
Common Name: rs10768683 HGVS Name: NG_000007.3:g.71055G>C

Context nucleotide sequence:
AACTTCAGGGTGAGTCTATGGGAC [G>C] CTTGATGTTTTCTTTCCCCTTCTTTTC (Strand: -)

Also known as: IVS II-16 G>C, HBB:c.315+16G>C

Comments: Variant identifies the polymorphic site AvaII in the beta-globin gene cluster that is used in the characterization of βS haplotypes (Benin, Bantu, Senegal, Cameroon, Arab-Indian). It has been included on SNP chips to infer β-haplotypes [PMID: 18829352, 28800727, 23606168] and to develop a fetal haplotype phase strategy for the NIPD of beta-thalassaemia [PMID: 22896714]. It has been found in a heterozygous and homozygous state in a normal healthy population from urban eastern India [PMID: 24099628], as well as in Mohajir families from Pakistan [PMID: 22392582].

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Allele Phenotype:Neutral
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71055
Size: 1 bp
Located at: β
Specific Location: Intron 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African American, Indian, Pakistani
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Liu L, Muralidhar S, Singh M, Sylvan C, Kalra IS, Quinn CT, Onyekwere OC, Pace BS, High-density SNP genotyping to define beta-globin locus haplotypes., Blood Cells Mol. Dis. , 42(1), 16-24, 2009
  2. Lam KW, Jiang P, Liao GJ, Chan KC, Leung TY, Chiu RW, Lo YM, Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia., Clin. Chem. , 58(10), 1467-75, 2012
  3. Moatter T, Kausar T, Aban M, Ghani S, Pal JA, Prenatal screening for β-thalassemia major reveals new and rare mutations in the Pakistani population., Int. J. Hematol. , 95(4), 394-8, 2012
  4. Sheehan VA, Luo Z, Flanagan JM, Howard TA, Thompson BW, Wang WC, Kutlar A, Ware RE, , Genetic modifiers of sickle cell anemia in the BABY HUG cohort: influence on laboratory and clinical phenotypes., Am. J. Hematol. , 88(7), 571-6, 2013
  5. Sahoo SS, Biswal S, Dixit M, Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population., Hemoglobin , 38(1), 33-8, 2014
  6. Shaikho EM, Farrell JJ, Alsultan A, Qutub H, Al-Ali AK, Figueiredo MS, Chui DHK, Farrer LA, Murphy GJ, Mostoslavsky G, Sebastiani P, Steinberg MH, A phased SNP-based classification of sickle cell anemia HBB haplotypes., BMC Genomics, 18(1), 608, 2017
Created on 2020-03-10 15:53:25, Last reviewed on 2020-04-22 12:27:46 (Show full history)

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