VCV000446740.3 - ClinVar

NM_000518.4(HBB):c.[280T>C;364G>C]

Germline

Classification

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.

(1)

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.

other

no assertion criteria provided

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

This haplotype includes the following variants

NM_000518.4(HBB):c.[280T>C;364G>C]

Other names: HBB, CYS93ARG AND GLU121GLN
Hb Cleveland
Functional consequence: -
Links: ClinGen: CA037750; OMIM: 141900.0407

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
Gene	OMIM	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	22	1835
LOC106099062	-	-	-	GRCh38	-	863
LOC107133510	-	-	-	GRCh38	-	1785
LOC110006319	-	-	-	GRCh38	-	984

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.
HEMOGLOBIN CLEVELAND	other (1)	no assertion criteria provided	Dec 12, 2017	RCV000016758.12

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 CLEVELAND Affected status: not provided Allele origin: germline	OMIM Accession: SCV000037028.4 First in ClinVar: Apr 04, 2013 Last updated: Jul 24, 2016	Publications: PubMed (1) PubMed: 1787096 Comment on evidence: See Wilson et al. (1991). This hemoglobin variant combines the mutations present in Hb D (glu121-to-gln; 141900.0065) and in Hb Okazaki (cys93-to-arg; 141900.0207).

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

Title	Author	Journal	Year	Link
Sickle Cell Disease.	Adam MP	-	2023	PMID: 20301551
Hb Brugg [HBA1:c.63C>A]: Report of an Ultra-Rare Variant Hemoglobin and Its Co-inheritance with Hb D-Punjab.	Sharma A	Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion	2021	PMID: 33867742
An Unusual Compound Heterozygosity for Hb O-Arab (HBB: c.364G>A) and Hb D-Los Angeles (HBB: c.364G>C).	van Gammeren AJ	Hemoglobin	2020	PMID: 31973650
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.	Scheps KG	Human mutation	2020	PMID: 31553106
Rare Association of Hb D-Los Angeles (HBB: c.364G>C) with Hb H Disease: Diagnosis and Clinical Implications.	Zioga A	Hemoglobin	2018	PMID: 30626242
Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis.	Torres Lde S	Revista brasileira de hematologia e hemoterapia	2015	PMID: 25818823
Coinheritance of Hb D-Punjab and β-thalassemia: diagnosis and implications in prenatal diagnosis.	Das S	Hemoglobin	2015	PMID: 25666204
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.	Tabor HK	American journal of human genetics	2014	PMID: 25087612
Haemoglobin sickle d punjab: - a case report.	Rahimah A	The Medical journal of Malaysia	2014	PMID: 24814631
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
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.	Rodriguez-Flores JL	Human mutation	2014	PMID: 24123366
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
In silico analysis of single nucleotide polymorphism (SNPs) in human β-globin gene.	Alanazi M	PloS one	2011	PMID: 22028795
Co-inheritance of hemoglobin D and β-thalassemia traits in three Iranian families: clinical relevance.	Taghavi Basmanj M	Archives of Iranian medicine	2011	PMID: 21194265
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).	Al-Gazali L	Human mutation	2010	PMID: 20437613
Does elevated hemoglobin F modulate the phenotype in Hb SD-Los Angeles?	Adekile A	Acta haematologica	2010	PMID: 20110664
Multi centric origin of Hb D-Punjab [beta121(GH4)Glu-->Gln, GAA>CAA].	Yavarian M	Hemoglobin	2009	PMID: 19958184
The beta-globin gene haplotypes associated with Hb D-Los Angeles [beta121(GH4)Glu --> Gln] in Western Iran.	Rahimi Z	Hemoglobin	2006	PMID: 16540414
High incidence of Hb D-Los Angeles [beta121(GH4)Glu-->Gln] in Denizli Province, Aegean region of Turkey.	Atalay EO	Hemoglobin	2005	PMID: 16370495
Rapid detection of beta-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis.	Shaji RV	Clinical chemistry	2003	PMID: 12709369
Molecular characterization of Hb D-Punjab [beta121(GH4)Glu-->Gln] in Thailand.	Fucharoen S	Hemoglobin	2002	PMID: 12403491
Hb T-Cambodia, a beta chain variant with the mutations of Hb E and Hb D-Punjab, confirmed by DNA analysis.	Hutt PJ	Hemoglobin	1997	PMID: 9140717
DNA polymorphisms associated with Hb D-Los Angeles [beta 121(GH4)Glu-->Gln] in southern Italy.	Fioretti G	Hemoglobin	1993	PMID: 8095930
Hb Cleveland or alpha 2 beta 2(93)(F9)Cys----Arg;121(GH4)Glu----Gln.	Wilson JB	Hemoglobin	1991	PMID: 1787096
Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level.	Schnee J	Human genetics	1990	PMID: 2307460
A new slow-moving hemoglobin variant Hb Tianshui or alpha 2 beta(2)39(C5)Gln----Arg, observed in a Chinese family living in Gansu.	Li HJ	Hemoglobin	1990	PMID: 2079437
Facilitation of Hb S polymerization by the substitution of Glu for Gln at beta 121.	Adachi K	The Journal of biological chemistry	1988	PMID: 2895770
Hb D Los Angeles [beta 121 Glu----Gln] in Japan.	Harano T	Hemoglobin	1987	PMID: 2887538
A note about the incidence and origin of Hb D-Punjab in Xinjiang, People's Republic of China.	Li HJ	Hemoglobin	1986	PMID: 3557998
Hemoglobin D-Los Angeles [beta 121(GH4)Glu----Gln] in the Province of Liège, Belgium.	Husquinet H	Hemoglobin	1986	PMID: 3557993
The first observation of Hb D Punjab beta zero thalassaemia in an English family with 22 cases of unsuspected beta zero thalassaemia minor among its members.	Worthington S	Journal of medical genetics	1985	PMID: 4078867
Hb Okazaki [beta 93(F8) Cys----Arg], a new hemoglobin variant with increased oxygen affinity and instability.	Harano K	FEBS letters	1984	PMID: 6745435
Haemoglobin D Punjab. Interaction with alpha thalassaemia and diagnosis by gene mapping.	Trent RJ	Scandinavian journal of haematology	1984	PMID: 6322284
Hemoglobin G-Taipei in three additional Chinese families.	Zeng YT	Hemoglobin	1981	PMID: 7338475
Hemoglobins Aida (alpha 64 Asp leads to Asn) and D-Los Angeles (beta 121 Glu leads to Gln) in an Asian-Indian family.	Bunn HF	Hemoglobin	1978	PMID: 750553
Globin chain synthesis in HbD (Punjab)-beta-thalassemia.	Rieder RF	Blood	1976	PMID: 1244906
Homozygous haemoglobin D Punjab.	Politis-Tsegos C	Journal of medical genetics	1975	PMID: 1177278
Identification of hemoglobin Oak ridge with hemoglobin D Punjab (Los Angeles).	Imamura T	Biochemical genetics	1972	PMID: 5050915
Homozygous hemoglobin D Punjab.	Ozsoylu S	Acta haematologica	1970	PMID: 4991321
Hemoglobin D Los Angeles in two Caucasian families: hemoglobin SD disease and hemoglobin D thalassemia.	Schneider RG	Blood	1968	PMID: 5672850
HEMOGLOBIN D IN AN OKLAHOMA FAMILY.	STOUT C	Archives of internal medicine	1964	PMID: 14160125
Abnormal human haemoglobins. VII. The comparison of normal human haemoglobin and haemoglobin D-Chicago.	BOWMAN B	Biochimica et biophysica acta	1961	PMID: 13872094
Three varieties of human haemoglobin D.	LEHMANN H	Nature	1958	PMID: 13590135
http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=output&display_format=page&i=509	-	-	-	-
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=HBB	-	-	-	-
http://www.ncbi.nlm.nih.gov/sites/GeneTests/review/gene/HBB	-	-	-	-
Lehmann, H. Haemolyse aufgrund instabiler Haemoglobine. In: Nowicki, L., Martin, H., Schubert, J. C. F. (eds.) Haemolyse-haemolytische Erkrankungen. Munich: J. F. Lehmanns Verlag (pub.) 1973.	-	-	-	-
Schneider, R. Personal Communication. 1978. Galveston, Tex.	-	-	-	-
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Text-mined citations for this variant ...

Record last updated Nov 25, 2024

ClinVar Genomic variation as it relates to human health

NM_000518.4(HBB):c.[280T>C;364G>C]

Variant Details

NM_000518.4(HBB):c.[280T>C;364G>C]

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...