ClinVar Genomic variation as it relates to human health
NM_000518.4(HBB):c.[19G>A;286A>G]
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.[19G>A;286A>G]
- Other names
- HBB, GLU6LYS AND LYS95GLU
- Hemoglobin Arlington Park
- Functional consequence
- -
- Links
- ClinGen: CA036550
- OMIM: 141900.0010
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
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. |
|||
HBB | - | - |
GRCh38 GRCh37 |
21 | 1815 | |
LOC106099062 | - | - | - | GRCh38 | - | 849 |
LOC107133510 | - | - | - | GRCh38 | - | 1767 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
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
Help
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
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
other (1) |
no assertion criteria provided
|
Dec 12, 2017 | RCV000016251.13 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
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
Help
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
Help
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
Help
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. |
|
---|---|---|---|---|---|
other
(Dec 12, 2017)
|
no assertion criteria provided
Method: literature only
|
HEMOGLOBIN ARLINGTON PARK
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000036519.4
First in ClinVar: Apr 04, 2013 Last updated: Mar 25, 2018 |
Comment on evidence:
May have arisen either through a second mutation in a person with HbC or Hb N(Baltimore), or through crossing-over in a person who was heterozygous … (more)
May have arisen either through a second mutation in a person with HbC or Hb N(Baltimore), or through crossing-over in a person who was heterozygous for both mutant hemoglobins. See Adams and Heller (1977). (less)
|
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 |
---|---|---|---|---|
Sickle Cell Disease. | Adam MP | - | 2023 | PMID: 20301551 |
Comprehensive analysis of mitochondrial and nuclear DNA variations in patients affected by hemoglobinopathies: A pilot study. | Barbanera Y | PloS one | 2020 | PMID: 33091040 |
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis. | Scheps KG | Human mutation | 2020 | PMID: 31553106 |
Interaction between hemoglobin S and N-Baltimore: a case report in Pernambuco, Brazil. | Batista THC | Hematology, transfusion and cell therapy | 2019 | PMID: 31126755 |
Compound Heterozygosity for Hb D-Ibadan (HBB: c.263C>A) and Hb C (HBB: c.19G>A). | Kundrapu S | Hemoglobin | 2018 | PMID: 30604644 |
Prevalence of Rare Hemoglobin Variants Identified During Measurements of Hb A(1c) by Capillary Electrophoresis. | Strickland SW | Clinical chemistry | 2017 | PMID: 28904057 |
Expanding the phenotype in argininosuccinic aciduria: need for new therapies. | Baruteau J | Journal of inherited metabolic disease | 2017 | PMID: 28251416 |
Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey. | Canatan D | Hemoglobin | 2016 | PMID: 27207683 |
Mild Microcytic Anemia in an Infant with a Compound Heterozygosity for Hb C (HBB: c.19G > A) and Hb Osu Christiansborg (HBB: c.157G > A). | Boucher MO | Hemoglobin | 2016 | PMID: 27117572 |
First Report of a Dominantly Inherited β-Thalassemia Caused by a Novel Elongated β-Globin Chain. | Farashi S | Hemoglobin | 2016 | PMID: 26850598 |
Corpus callosum abnormalities: neuroradiological and clinical correlations. | Al-Hashim AH | Developmental medicine and child neurology | 2016 | PMID: 26661037 |
Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease. | Akinbami AO | Hemoglobin | 2016 | PMID: 26372199 |
Newborn Screening for Sickle Cell Disease: Jamaican Experience. | Mason K | The West Indian medical journal | 2015 | PMID: 26901597 |
Hemoglobin C disease. | Bain BJ | American journal of hematology | 2015 | PMID: 25488433 |
Effects of hemoglobin variants on hemoglobin a1c values measured using a high-performance liquid chromatography method. | Lorenzo-Medina M | Journal of diabetes science and technology | 2014 | PMID: 25355712 |
Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population. | Sahoo SS | Hemoglobin | 2014 | PMID: 24099628 |
The distribution of haemoglobin C and its prevalence in newborns in Africa. | Piel FB | Scientific reports | 2013 | PMID: 23591685 |
The clinical and laboratory spectrum of Hb C [β6(A3)Glu→Lys, GAG>AAG] disease. | Cook CM | Hemoglobin | 2013 | PMID: 23297836 |
Hemoglobins S and C interfere with actin remodeling in Plasmodium falciparum-infected erythrocytes. | Cyrklaff M | Science (New York, N.Y.) | 2011 | PMID: 22075726 |
Genetic variation in human HBB is associated with Plasmodium falciparum transmission. | Gouagna LC | Nature genetics | 2010 | PMID: 20305663 |
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria. | Mercimek-Mahmutoglu S | Molecular genetics and metabolism | 2010 | PMID: 20236848 |
The accurate prediction of rare hemoglobin variants using a combination of high performance liquid chromatography, retention time and isoelectric focusing electrophoresis position. | Khalil MS | Saudi medical journal | 2009 | PMID: 19750260 |
Newborn screening for hemoglobinopathies in California. | Michlitsch J | Pediatric blood & cancer | 2009 | PMID: 19061217 |
Haemoglobin S and haemoglobin C: 'quick but costly' versus 'slow but gratis' genetic adaptations to Plasmodium falciparum malaria. | Modiano D | Human molecular genetics | 2008 | PMID: 18048408 |
The beta -globin recombinational hotspot reduces the effects of strong selection around HbC, a recently arisen mutation providing resistance to malaria. | Wood ET | American journal of human genetics | 2005 | PMID: 16175509 |
Abnormal display of PfEMP-1 on erythrocytes carrying haemoglobin C may protect against malaria. | Fairhurst RM | Nature | 2005 | PMID: 15973412 |
A novel sickle hemoglobin: hemoglobin S-south end. | Luo HY | Journal of pediatric hematology/oncology | 2004 | PMID: 15543018 |
Estimation of relative fitnesses from relative risk data and the predicted future of haemoglobin alleles S and C. | Hedrick P | Journal of evolutionary biology | 2004 | PMID: 15000665 |
Hemoglobin C is associated with reduced Plasmodium falciparum parasitemia and low risk of mild malaria attack. | Rihet P | Human molecular genetics | 2004 | PMID: 14613965 |
The paradox of hemoglobin SC disease. | Nagel RL | Blood reviews | 2003 | PMID: 12818227 |
Haemoglobin C protects against clinical Plasmodium falciparum malaria. | Modiano D | Nature | 2001 | PMID: 11713529 |
Hemoglobin C associated with protection from severe malaria in the Dogon of Mali, a West African population with a low prevalence of hemoglobin S. | Agarwal A | Blood | 2000 | PMID: 11001883 |
Combinations of beta chain abnormal hemoglobins with each other or with beta-thalassemia determinants with known mutations: influence on phenotype. | Huisman TH | Clinical chemistry | 1997 | PMID: 9342003 |
HbC compound heterozygotes [HbC/Hb Riyadh and HbC/Hb N-Baltimore] with opposing effects upon HbC crystallization. | Hirsch RE | British journal of haematology | 1997 | PMID: 9163585 |
Fatal pneumococcal septicemia in hemoglobin SC disease. | Lane PA | The Journal of pediatrics | 1994 | PMID: 8201467 |
Role of alpha and beta carboxyl-terminal residues in the kinetics of human oxyhemoglobin dimer assembly. | Joshi AA | The Journal of biological chemistry | 1994 | PMID: 7907594 |
A silver enhanced, gold labelled, immunosorbent assay for detecting antibodies to rubella virus. | Patel N | Journal of clinical pathology | 1991 | PMID: 2030155 |
Nucleotide sequence evidence of the unicentric origin of the beta C mutation in Africa. | Trabuchet G | Human genetics | 1991 | PMID: 1680789 |
Hb N-Baltimore [alpha 2 beta 2(95)(FG2)Lys----Glu] and Hb J-Iran [alpha 2 beta 2(77)(Ef1]His----Asp] observed in a Turkish family from Antalya. | Bircan I | Hemoglobin | 1990 | PMID: 2283300 |
Rapid detection of the hemoglobin C mutation by allele-specific polymerase chain reaction. | Fischel-Ghodsian N | American journal of human genetics | 1990 | PMID: 2239966 |
Proton NMR studies of human hemoglobin variants modified in the proximal side of beta heme pocket. Implications for the affinity control and cooperative mechanism. | Craescu CT | The Journal of biological chemistry | 1988 | PMID: 3343245 |
Effect of amino acid at the beta 6 position on surface hydrophobicity, stability, solubility, and the kinetics of polymerization of hemoglobin. Comparisons among Hb A (Glu beta 6), Hb C (Lys beta 6), Hb Machida (Gln beta 6), and Hb S (Val beta 6). | Adachi K | The Journal of biological chemistry | 1987 | PMID: 2888754 |
Electrostatic attraction governs the dimer assembly of human hemoglobin. | Mrabet NT | The Journal of biological chemistry | 1986 | PMID: 3957922 |
Evidence supporting a single origin of the beta(C)-globin gene in blacks. | Boehm CD | American journal of human genetics | 1985 | PMID: 9556665 |
Biosynthetic evidence for stability of Hb N-Baltimore. | Ballas SK | Hemoglobin | 1985 | PMID: 4086303 |
Developmental pattern of splenic dysfunction in sickle cell disorders. | Pearson HA | Pediatrics | 1985 | PMID: 2412200 |
Percentages of abnormal hemoglobins in adults with a heterozygosity for an alpha-chain and/or a beta-chain variant. | Huisman TH | American journal of hematology | 1983 | PMID: 6859036 |
Clinical, hematological, and biochemical features of Hb SC disease. | Ballas SK | American journal of hematology | 1982 | PMID: 7137165 |
Some aspects of the pathophysiology of homozygous Hb CC erythrocytes. | Fabry ME | The Journal of clinical investigation | 1981 | PMID: 7229029 |
Interaction between cytochrome b5 and hemoglobin: involvement of beta 66 (E10) and beta 95 (FG2) lysyl residues of hemoglobin. | Gacon G | Proceedings of the National Academy of Sciences of the United States of America | 1980 | PMID: 6769116 |
The hemoglobin P-Galveston-Hb-C conduction in members of a black family from South Carolina. | Huisman TH | FEBS letters | 1978 | PMID: 700140 |
Interaction between human hemoglobin variants and hemoglobin S. | Kumpati J | Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.) | 1978 | PMID: 622390 |
Hemoglobin Arlington Park. A new hemoglobin variant with two amino acid substitutions in the beta chain. | Adams JG | Hemoglobin | 1977 | PMID: 893139 |
Hemoglobin Arlington Park. A new hemoglobin variant with two amino acid substitutions in the beta chain. | Adams JG | Hemoglobin | 1977 | PMID: 893139 |
Hemoglobin St. Louis [beta 28 (B10) Leu replaced by Gln]: crystal structure of the fully reduced (deoxy) form. | Anderson NL | The Journal of clinical investigation | 1976 | PMID: 993333 |
Abnormal hemoglobins in a quarter million people. | Schneider RG | Blood | 1976 | PMID: 974261 |
A case with both hemoglobins C and N-Baltimore. | Johnson C | Acta haematologica | 1976 | PMID: 826073 |
Hemoglobin Hiroshima (beta-143 histidine--aspartic acid): a newly identified fast moving beta chain variant associated with increased oxygen affinity and compensatory erythremia. | Hamilton HB | The Journal of clinical investigation | 1969 | PMID: 5773089 |
Pathogenesis of hemolytic anemia in homozygous hemoglobin C disease. | Charache S | The Journal of clinical investigation | 1967 | PMID: 6061750 |
Primary structure of Hopkins-1 haemoglobin. | Gottlieb AJ | Nature | 1967 | PMID: 6034218 |
Hemoglobin Jenkins or hemoglobin-N-Baltimore or alpha-2-beta-2 95Glu. | Dobbs NB Jr | Biochimica et biophysica acta | 1966 | PMID: 5961314 |
An improved method for the characterization of human haemoglobin mutants: identification of alpha-2-beta-2-95GLU, haemoglobin N (Baltimore). | Clegg JB | Nature | 1965 | PMID: 5886928 |
S-C hemoglobin: a clinical study. | RIVER GL | Blood | 1961 | PMID: 14492555 |
Four adult haemoglobin types in one person. | BAGLIONI C | Nature | 1961 | PMID: 13685866 |
A terminal peptide sequence of human haemoglobin? | HUNT JA | Nature | 1959 | PMID: 14405428 |
Clinical manifestations of hemoglobin C disorders. | SMITH EW | Bulletin of the Johns Hopkins Hospital | 1959 | PMID: 13618691 |
Protection afforded by sickle-cell trait against subtertian malareal infection. | ALLISON AC | British medical journal | 1954 | PMID: 13115700 |
Some clinical, biochemical and genetic observations on hemoglobin C. | RANNEY HM | The Journal of clinical investigation | 1953 | PMID: 13108995 |
A new inherited abnormality of human hemoglobin. | ITANO HA | Proceedings of the National Academy of Sciences of the United States of America | 1950 | PMID: 14808148 |
The Inheritance of Sickle Cell Anemia. | Neel JV | Science (New York, N.Y.) | 1949 | PMID: 17774955 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=HBB | - | - | - | - |
https://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=227&.cgifields=histD | - | - | - | - |
click to load more click to collapse |
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.