ClinVar Genomic variation as it relates to human health
NM_001360016.2(G6PD):c.[376A>G;680G>T]
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_001360016.2(G6PD):c.[376A>G;680G>T]
- Other names
- G6PD A-
- G6PD Selma
- Functional consequence
- -
- Links
- -
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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G6PD | - | - |
GRCh38 GRCh37 |
639 | 955 |
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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Likely pathogenic (1) |
criteria provided, single submitter
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Aug 12, 2022 | RCV002305857.10 |
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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Likely pathogenic
(Aug 12, 2022)
|
criteria provided, single submitter
Method: curation
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Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Affected status: yes
Allele origin:
unknown
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Dunham Lab, University of Washington
Accession: SCV002599216.1
First in ClinVar: Nov 13, 2022 Last updated: Nov 13, 2022 |
Comment:
Variant found in hemizygote with deficiency (PP4). Decreased activity (9%) and stability in red blood cells and when expressed in E. coli (PS3). 680G>T is … (more)
Variant found in hemizygote with deficiency (PP4). Decreased activity (9%) and stability in red blood cells and when expressed in E. coli (PS3). 680G>T is below expected carrier frequency in gnomAD (PM2). Post_P 0.949 (odds of pathogenicity 168.4, Prior_P 0.1). (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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Functional and structural analysis of double and triple mutants reveals the contribution of protein instability to clinical manifestations of G6PD variants. | Praoparotai A | International journal of biological macromolecules | 2020 | PMID: 32387609 |
Assessment of glucose-6-phosphate dehydrogenase activity using CareStart G6PD rapid diagnostic test and associated genetic variants in Plasmodium vivax malaria endemic setting in Mauritania. | Djigo OKM | PloS one | 2019 | PMID: 31525211 |
Genotype-Phenotype Correlations of Glucose-6-Phosphate-Deficient Variants Throughout an Activity Distribution. | Powers JL | The journal of applied laboratory medicine | 2018 | PMID: 33636823 |
Glucose-6-phosphate dehydrogenase activity measured by spectrophotometry and associated genetic variants from the Oromiya zone, Ethiopia. | Kießling N | Malaria journal | 2018 | PMID: 30314477 |
New cases of Glucose-6-Phosphate Dehydrogenase deficiency in Pulmonary Arterial Hypertension. | Kurdyukov S | PloS one | 2018 | PMID: 30161219 |
Glucose-6-Phosphate Dehydrogenase Deficiency Genetic Variants in Malaria Patients in Southwestern Ethiopia. | Carter TE | The American journal of tropical medicine and hygiene | 2018 | PMID: 29141760 |
Biochemical Analysis of Two Single Mutants that Give Rise to a Polymorphic G6PD A-Double Mutant. | Ramírez-Nava EJ | International journal of molecular sciences | 2017 | PMID: 29072585 |
The G6PD flow-cytometric assay is a reliable tool for diagnosis of G6PD deficiency in women and anaemic subjects. | Bancone G | Scientific reports | 2017 | PMID: 28852037 |
A patient with both methemoglobinemia and G6PD deficiency: A therapeutic conundrum. | Reading NS | American journal of hematology | 2017 | PMID: 28195434 |
Revisiting the morbid genome of Mendelian disorders. | Abouelhoda M | Genome biology | 2016 | PMID: 27884173 |
Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World. | Doss CG | Scientific reports | 2016 | PMID: 27853304 |
Analysis of protein-coding genetic variation in 60,706 humans. | Lek M | Nature | 2016 | PMID: 27535533 |
Safety of a single low-dose of primaquine in addition to standard artemether-lumefantrine regimen for treatment of acute uncomplicated Plasmodium falciparum malaria in Tanzania. | Mwaiswelo R | Malaria journal | 2016 | PMID: 27287612 |
NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine. | Abulí A | Human mutation | 2016 | PMID: 26990548 |
Mutations of Glucose-6-Phosphate Dehydrogenase Durham, Santa-Maria and A+ Variants Are Associated with Loss Functional and Structural Stability of the Protein. | Gómez-Manzo S | International journal of molecular sciences | 2015 | PMID: 26633385 |
Genetic determinants of glucose-6-phosphate dehydrogenase activity in Kenya. | Shah SS | BMC medical genetics | 2014 | PMID: 25201310 |
Comparison of quantitative and qualitative tests for glucose-6-phosphate dehydrogenase deficiency. | LaRue N | The American journal of tropical medicine and hygiene | 2014 | PMID: 25071003 |
Two new class III G6PD variants [G6PD Tunis (c.920A>C: p.307Gln>Pro) and G6PD Nefza (c.968T>C: p.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia. | Benmansour I | Blood cells, molecules & diseases | 2013 | PMID: 22963789 |
Candidate human genetic polymorphisms and severe malaria in a Tanzanian population. | Manjurano A | PloS one | 2012 | PMID: 23144702 |
Five novel glucose-6-phosphate dehydrogenase deficiency haplotypes correlating with disease severity. | Dallol A | Journal of translational medicine | 2012 | PMID: 23006493 |
A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency. | Pisani A | Journal of nephrology | 2012 | PMID: 22307442 |
Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach. | B R | PloS one | 2011 | PMID: 21931771 |
Unsuspected glucose-6-phosphate dehydrogenase deficiency presenting as symptomatic methemoglobinemia with severe hemolysis after fava bean ingestion in a 6-year-old boy. | Odièvre MH | International journal of hematology | 2011 | PMID: 21479984 |
G6PD deficiency assessment in Freetown, Sierra Leone, reveals further insight into the molecular heterogeneity of G6PD A-. | Jalloh A | Journal of human genetics | 2008 | PMID: 18452027 |
Rapid screening for glucose-6-phosphate dehydrogenase deficiency and haemoglobin polymorphisms in Africa by a simple high-throughput SSOP-ELISA method. | Enevold A | Malaria journal | 2005 | PMID: 16356170 |
Mild hemolysis in a girl with G6PD Sumaré (class I variant) associated with G6PD A-. | Saad ST | Blood cells, molecules & diseases | 2003 | PMID: 12737938 |
Molecular heterogeneity of G6PD deficiency in an Amazonian population and description of four new variants. | Hamel AR | Blood cells, molecules & diseases | 2002 | PMID: 12367584 |
Structural defects underlying protein dysfunction in human glucose-6-phosphate dehydrogenase A(-) deficiency. | Gómez-Gallego F | The Journal of biological chemistry | 2000 | PMID: 10734064 |
Population study of common glucose-6-phosphate dehydrogenase mutations in Kuwait. | Samilchuk E | Human heredity | 1999 | PMID: 9858856 |
Independent origin of single and double mutations in the human glucose 6-phosphate dehydrogenase gene. | Vulliamy T | Human mutation | 1996 | PMID: 8956035 |
Multiple G6PD mutations are associated with a clinical and biochemical phenotype similar to that of G6PD Mediterranean. | Cappellini MD | Blood | 1996 | PMID: 8611726 |
G6PD deficiency. | Beutler E | Blood | 1994 | PMID: 7949118 |
The molecular basis of glucose-6-phosphate dehydrogenase deficiency. | Vulliamy T | Trends in genetics : TIG | 1992 | PMID: 1631957 |
Both mutations in G6PD A- are necessary to produce the G6PD deficient phenotype. | Town M | Human molecular genetics | 1992 | PMID: 1303173 |
Common glucose-6-phosphate dehydrogenase (G6PD) variants from the Italian population: biochemical and molecular characterization. | Viglietto G | Annals of human genetics | 1990 | PMID: 2321910 |
The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia. | Beutler E | American journal of human genetics | 1990 | PMID: 1978554 |
Molecular heterogeneity of glucose-6-phosphate dehydrogenase A-. | Beutler E | Blood | 1989 | PMID: 2572288 |
Molecular heterogeneity of glucose-6-phosphate dehydrogenase A-. | Beutler E | Blood | 1989 | PMID: 2572288 |
G6PD mahidol, a common deficient variant in South East Asia is caused by a (163)glycine----serine mutation. | Vulliamy TJ | Nucleic acids research | 1989 | PMID: 2503817 |
Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia. | Vulliamy TJ | Proceedings of the National Academy of Sciences of the United States of America | 1988 | PMID: 3393536 |
Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-). | Hirono A | Proceedings of the National Academy of Sciences of the United States of America | 1988 | PMID: 2836867 |
Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-). | Hirono A | Proceedings of the National Academy of Sciences of the United States of America | 1988 | PMID: 2836867 |
A single nucleotide base transition is the basis of the common human glucose-6-phosphate dehydrogenase variant A (+). | Takizawa T | Genomics | 1987 | PMID: 3446582 |
Genetic variants of human erythrocyte glucose-6-phosphate dehydrogenase. Kinetic and thermodynamic parameters of variants A, B, and A- in relation to quaternary structure. | Babalola AO | The Journal of biological chemistry | 1976 | PMID: 5448 |
Studies of polymorphic traits for the characterization of populations. African populations south of the Sahara. | Luzzatto L | Israel journal of medical sciences | 1973 | PMID: 4359638 |
Negro variant of glucose-6-phosphate dehydrogenase deficiency (A-) in man. | Yoshida A | Science (New York, N.Y.) | 1967 | PMID: 6015571 |
Human glucose 6-phosphate dehydrogenase: purification and characterization of Negro type variant (A+) and comparison with normal enzyme (B+). | Yoshida A | Biochemical genetics | 1967 | PMID: 4388132 |
FUNCTIONALLY ABNORMAL GLUCOSE-6-PHOSPHATE DEHYDROGENASES. | KIRKMAN HN | Cold Spring Harbor symposia on quantitative biology | 1964 | PMID: 14278484 |
Electrophoretic heterogeneity of glucose-6-phosphate dehydrogenase and its relationship to enzyme deficiency in man. | BOYER SH | Proceedings of the National Academy of Sciences of the United States of America | 1962 | PMID: 14014720 |
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Text-mined citations for this variant ...
HelpRecord last updated Jul 15, 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.