ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.93-21G>A (rs35004220)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030008 SCV000052663 pathogenic Beta thalassemia major 2011-08-18 criteria provided, single submitter curation Converted during submission to Pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507963 SCV000603912 pathogenic not specified 2018-07-03 criteria provided, single submitter clinical testing The HBB c.93-21G>A variant (also known as IVS-I-110 G>A) has been identified in multiple patients diagnosed with beta+ thalassemia (Spritz 1981, Westaway 1981, Kaplan 1990), and is one of the most common beta-thalassemia alleles in Mediterranean countries (Baysal 1992, HbVar database and references therein). REFERENCES Link to HbVar database for IVS-I-110 (G->A): http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=827 Baysal E et al. The beta-thalassaemia mutations in the population of Cyprus. Br J Haematol. 1992; 81(4):607-9. Kaplan F et al. Beta-thalassemia genes in French-Canadians: haplotype and mutation analysis of Portneuf chromosomes. Am J Hum Genet. 1990; 46(1):126-32. Spritz R et al. Base substitution in an intervening sequence of a beta+-thalassemic human globin gene. Proc Natl Acad Sci U S A. 1981; 78(4):2455-9. Westaway D et al. An intron nucleotide sequence variant in a cloned beta +-thalassaemia globin gene. Nucleic Acids Res. 1981; 9(8):1777-88.
Counsyl RCV000020343 SCV000678053 pathogenic beta Thalassemia 2015-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763251 SCV000893888 pathogenic Beta-thalassemia, dominant inclusion body type; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; alpha Thalassemia; Susceptibility to malaria; beta Thalassemia; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis 6, familial 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000799079 SCV000938726 pathogenic not provided 2018-10-15 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the HBB gene. It does not directly change the encoded amino acid sequence of the HBB protein. This variant is present in population databases (rs35004220, ExAC 0.03%). This variant has been observed to be homozygous and in combination with other pathogenic HBB variants in many individuals and families affected with HBB-related conditions (PMID: 28391758, 2200760, 1967205, 28366028). This variant is also known as IVS-I-110G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 15454). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001004346 SCV001163281 pathogenic Hb SS disease criteria provided, single submitter clinical testing
OMIM RCV000016712 SCV000036982 pathogenic Beta-plus-thalassemia 1990-01-01 no assertion criteria provided literature only
GeneReviews RCV000020343 SCV000040719 pathogenic beta Thalassemia 2015-05-14 no assertion criteria provided literature only
Pediatric Molecular Hematology,Schneider Children's Medical Center of Israel RCV000020343 SCV000579457 pathogenic beta Thalassemia no assertion criteria provided clinical testing

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