VCV000446751.2 - ClinVar

NM_000559.2(HBG1):c.[227C>T;410C>G]

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_000559.2(HBG1):c.[227C>T;410C>G]

Other names: Hb F-Charlotte
HBG1, ILE75THR AND ALA136GLY
Functional consequence: -
Links: ClinGen: CA035937; OMIM: 142200.0032

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.
HBG1		-	-	GRCh38 GRCh37	16	77
LOC106099064	-	-	-	GRCh38	-	42

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 F (CHARLOTTE)	other (1)	no assertion criteria provided	Jul 15, 2011	RCV000016180.10

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 (Jul 15, 2011)	no assertion criteria provided Method: literature only	HEMOGLOBIN F (CHARLOTTE) Affected status: not provided Allele origin: germline	OMIM Accession: SCV000036448.1 First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013	Publications: PubMed (1) PubMed: 1714434 Comment on evidence: In a black newborn baby, Plaseska et al. (1990) found that about 10% of the hemoglobin in a cord blood sample contained abnormal hemoglobin with … (more) In a black newborn baby, Plaseska et al. (1990) found that about 10% of the hemoglobin in a cord blood sample contained abnormal hemoglobin with 2 substitutions, threonine for isoleucine-75 and glycine for alanine-136. (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

Title	Author	Journal	Year	Link
The G gamma T chain (G gamma 75 Thr; 136 Gly) in Hb F-Charlotte is the product of an A gamma gene with a limited gene conversion and that in Hb F-Waynesboro of a mutated G gamma gene.	Gu LH	Hemoglobin	1995	PMID: 8718701
Hb F-Charlotte, an A gamma variant with a threonine residue in position gamma 75 and a glycine residue in position gamma 136.	Plaseska D	Hemoglobin	1990	PMID: 1714434
The frequency of the gamma chain variant A gamma T in different populations, and its use in evaluating gamma gene expression in association with thalassemia.	Huisman TH	Human genetics	1985	PMID: 2412945
Quantitation of three types of gamma chain of HbF by high pressure liquid chromatography; application of this method to the HbF of patients with sickle cell anemia or the S-HPFH condition.	Huisman TH	Blood	1981	PMID: 6160889
Human T gamma globin chain is a variant of A gamma chain (A gamma Sardinia).	Saglio G	Proceedings of the National Academy of Sciences of the United States of America	1979	PMID: 291015
Significance of a new type of human fetal hemoglobin carrying a replacement isoleucine replaced by threonine at position 75 )E 19) of the gamma chain.	Ricco G	Human genetics	1976	PMID: 939551
A new Hb variant: Hb F Sardinia gamma75(E19) isoleucine leads to threonine found in a family with Hb G Philadelphia, beta-chain deficiency and a Lepore-like haemoglobin indistinguishable from Hb A2.	Grifoni V	Acta haematologica	1975	PMID: 808940
Schroeder, W. A., Huisman, T. H. J. Human gamma chains: structural features. In: Stamatoyannopoulos, G., Nienhuis, A. W. Cellular and Molecular Regulation of Hemoglobin Switching. New York: Grune and Stratton (pub.) 28-45, 1979.	-	-	-	-

Text-mined citations for this variant ...

Record last updated Nov 10, 2024

ClinVar Genomic variation as it relates to human health

NM_000559.2(HBG1):c.[227C>T;410C>G]

Variant Details

NM_000559.2(HBG1):c.[227C>T;410C>G]

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...