ClinVar Genomic variation as it relates to human health
NM_000518.4(HBB):c.[34G>A;364G>A]
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
NM_000518.4(HBB):c.[34G>A;364G>A]
- Other names
- HBB, GLU121LYS, VAL11ILE
- Hb O-Tibesti
- Functional consequence
- -
- Links
- ClinGen: CA037973
- OMIM: 141900.0507
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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HBB | - | - |
GRCh38 GRCh37 |
21 | 1815 | |
LOC106099062 | - | - | - | GRCh38 | - | 849 |
LOC107133510 | - | - | - | GRCh38 | - | 1767 |
LOC110006319 | - | - | - | GRCh38 | - | 976 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
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The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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other (1) |
no assertion criteria provided
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Dec 12, 2017 | RCV000016863.12 |
Submissions - Germline
Classification
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The submitted germline classification for each SCV record. (Last evaluated) |
Review status
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Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
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The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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other
(Dec 12, 2017)
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no assertion criteria provided
Method: literature only
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HEMOGLOBIN O (TIBESTI)
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000037133.4
First in ClinVar: Apr 04, 2013 Last updated: Jul 24, 2016 |
Comment on evidence:
Prehu et al. (2002) described a heterozygous hemoglobin variant that combined the change of Hb O-Arab (141900.0202) and Hb Hamilton (141900.0099) on the same HBB … (more)
Prehu et al. (2002) described a heterozygous hemoglobin variant that combined the change of Hb O-Arab (141900.0202) and Hb Hamilton (141900.0099) on the same HBB allele. The other allele carried the Hb S mutation (141900.0243). The patient was a child of Chad-Sudanese descent, suffering from a sickle cell syndrome. Compared to the classic description of the Hb S/Hb O-Arab association, the additional Hb Hamilton mutation did not seem to modify the clinical presentation. (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Sickle Cell Disease. | Adam MP | - | 2023 | PMID: 20301551 |
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism. | Fu JM | Nature genetics | 2022 | PMID: 35982160 |
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. | Zhou X | Nature genetics | 2022 | PMID: 35982159 |
Spectrum of HBB gene mutations among 696 β-thalassemia patients and carriers in Southern Vietnam. | Xinh PT | Molecular biology reports | 2022 | PMID: 35023007 |
[Effect of high-throughput sequencing for the prevention and control of thalassemia]. | Chen Y | Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2020 | PMID: 32472543 |
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis. | Scheps KG | Human mutation | 2020 | PMID: 31553106 |
Two novel unstable hemoglobin variants due to in-frame deletions of key amino acids in the β-globin chain. | Scheps KG | European journal of haematology | 2018 | PMID: 29319890 |
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies. | Shang X | EBioMedicine | 2017 | PMID: 28865746 |
Coinheritance of Hb D-Punjab and β-thalassemia: diagnosis and implications in prenatal diagnosis. | Das S | Hemoglobin | 2015 | PMID: 25666204 |
Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology. | Hassan SM | Blood cells, molecules & diseases | 2014 | PMID: 24880717 |
The effect of hydroxyurea on compound heterozygotes for sickle cell-hemoglobin D-Punjab--a single centre experience in eastern India. | Patel S | Pediatric blood & cancer | 2014 | PMID: 24616059 |
Fetal hemoglobin and alpha thalassemia modulate the phenotypic expression of HbSD-Punjab. | Patel DK | International journal of laboratory hematology | 2014 | PMID: 24245819 |
Prevalence and genetic analysis of α-thalassemia and β-thalassemia in Chongqing area of China. | Yao XY | Gene | 2013 | PMID: 24055728 |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. | Lazarin GA | Genetics in medicine : official journal of the American College of Medical Genetics | 2013 | PMID: 22975760 |
Bone marrow necrosis and sickle cell crisis associated with double heterozygosity for HbS and HbOARAB. | Rossi P | American journal of hematology | 2011 | PMID: 20954261 |
Compound heterozygosity of Hb Hamilton and de novo mutated HbM Saskatoon. | Brunner-Agten S | Annals of hematology | 2010 | PMID: 19727720 |
Impact of single nucleotide polymorphisms in HBB gene causing haemoglobinopathies: in silico analysis. | George Priya Doss C | New biotechnology | 2009 | PMID: 19429541 |
Hb O-Tibesti [beta121(GH4)Glu-->Lys; beta11(A8)Val-->Ile], a hemoglobin variant carrying in the same beta chain the substitutions of Hb O-Arab and Hb Hamilton, found in combination with Hb S [beta6(A3)Glu-->Val]. | Préhu C | Hemoglobin | 2002 | PMID: 11939508 |
Hb O-Tibesti [beta121(GH4)Glu-->Lys; beta11(A8)Val-->Ile], a hemoglobin variant carrying in the same beta chain the substitutions of Hb O-Arab and Hb Hamilton, found in combination with Hb S [beta6(A3)Glu-->Val]. | Préhu C | Hemoglobin | 2002 | PMID: 11939508 |
Characterization of syntenin, a syndecan-binding PDZ protein, as a component of cell adhesion sites and microfilaments. | Zimmermann P | Molecular biology of the cell | 2001 | PMID: 11179419 |
The erythrocyte effects of haemoglobin O(ARAB). | Nagel RL | British journal of haematology | 1999 | PMID: 10583251 |
Hemoglobin S/O(Arab): thirteen new cases and review of the literature. | Zimmerman SA | American journal of hematology | 1999 | PMID: 10203101 |
HbS-oman heterozygote: a new dominant sickle syndrome. | Nagel RL | Blood | 1998 | PMID: 9834244 |
Hb O-Arab [beta 121(GH4)Glu-->Lys]: association with DNA polymorphisms of African ancestry in two Mediterranean families. | Lacerra G | Hemoglobin | 1993 | PMID: 7908281 |
Hemoglobin variants and activity of the (K+Cl-) cotransport system in human erythrocytes. | Olivieri O | Blood | 1992 | PMID: 1732017 |
Identification of Hb Hamilton or beta 11(A8)Val----Ile gene by the polymerase chain reaction amplification technique. | Manca L | Biochimica et biophysica acta | 1992 | PMID: 1610915 |
Hb H disease in association with the silent beta chain variant Hb Hamilton or alpha 2 beta 2(11)(A8)Val----Ile. | Su CW | Hemoglobin | 1992 | PMID: 1428944 |
Hemoglobin Hamilton [beta 11(A8)Val----Ile] in Sardinia. | Manca L | Hemoglobin | 1987 | PMID: 3623977 |
The interaction of hemoglobin O Arab with Hb S and beta+ thalassemia among Israeli Arabs. | Rachmilewitz EA | Human genetics | 1985 | PMID: 3859465 |
Hb Doha or alpha 2 beta 2[X-N-Met-1(NA1)Val----Glu]; a new beta-chain abnormal hemoglobin observed in a Qatari female. | Kamel K | Biochimica et biophysica acta | 1985 | PMID: 3840039 |
Hemoglobin Hamilton or alpha 2 beta 2 11(A8)Val leads to Ile: a silent beta-chain variant detected by Triton X-100 acid-urea polyacrylamide gel electrophoresis. | Wong SC | American journal of hematology | 1984 | PMID: 6695908 |
The detection and use of hemoglobin mutants in the direct analysis of human globin genes. | Little PF | Blood | 1980 | PMID: 6246994 |
Homozygous hemoglobin O Arab in a gypsy family in Yugoslavia. | Efremov GD | Hemoglobin | 1977 | PMID: 893136 |
Postsynthetic deamidation of hemoglobin Providence (beta 82 Lys replaced by Asn, Asp) and its effect on oxygen transport. | Charache S | The Journal of clinical investigation | 1977 | PMID: 14973 |
Twelve families with Hb O Arab in the Burgas district of Bulgaria. Observations on sixteen examples of Hb O Arab-beta (0) thalassaemia. | Kantchev KN | Humangenetik | 1975 | PMID: 1112610 |
Hemoglobin O arab in four negro families and its interaction with hemoglobin S and hemoglobin C. | Milner PF | The New England journal of medicine | 1970 | PMID: 5481775 |
High incidence of haemoglobin G Accra in a rural district in Jamaica. | Milner PF | Journal of medical genetics | 1967 | PMID: 5619995 |
"Hemoglobin alpha2beta2-121ys" chemical identification in an egyptian family. | Kamel KA | Science (New York, N.Y.) | 1967 | PMID: 5609824 |
Haemoglobin O Arab in Sudanese. | Vella F | Nature | 1966 | PMID: 5915974 |
Haemoglobin O in An Arab Family. | Ramot B | British medical journal | 1960 | PMID: 20788973 |
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Text-mined citations for this variant ...
HelpRecord last updated Apr 20, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.