ClinVar Genomic variation as it relates to human health
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
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
- Identifiers
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NM_000518.5(HBB):c.126_129del (p.Phe42fs)
Variation ID: 15417 Accession: VCV000015417.123
- Type and length
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Deletion, 4 bp
- Location
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Cytogenetic: 11p15.4 11: 5226763-5226766 (GRCh38) [ NCBI UCSC ] 11: 5247993-5247996 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Mar 22, 2017 Mar 16, 2024 Jan 31, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000518.5:c.126_129del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000509.1:p.Phe42fs frameshift NM_000518.5:c.126_129delCTTT MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NM_000518.4:c.124_127delTTCT NC_000011.10:g.5226765_5226768del NC_000011.9:g.5247995_5247998del NG_000007.3:g.70850_70853del NG_042296.1:g.296_299del NG_046672.1:g.4700_4703del NG_059281.1:g.5306_5309del LRG_1232:g.5306_5309del LRG_1232t1:c.126_129del LRG_1232p1:p.Phe42fs - Protein change
- F42fs
- Other names
- 41/42-TTCT
- CD 41/42 (-CTTT)
- Canonical SPDI
- NC_000011.10:5226762:AAAGAA:AA
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00100 (AA)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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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 | ||
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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. |
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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. |
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Pathogenic (1) |
no assertion criteria provided
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Sep 28, 2002 | RCV000016673.37 | |
Pathogenic/Likely pathogenic (6) |
criteria provided, multiple submitters, no conflicts
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Dec 9, 2019 | RCV000020328.25 | |
Pathogenic (7) |
criteria provided, multiple submitters, no conflicts
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Jan 31, 2024 | RCV000508554.32 | |
Pathogenic (1) |
criteria provided, single submitter
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- | RCV001004569.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 1, 2019 | RCV001262999.9 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Nov 4, 2021 | RCV002465488.12 | |
Pathogenic (1) |
criteria provided, single submitter
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Nov 25, 2015 | RCV002426507.8 | |
Pathogenic (1) |
criteria provided, single submitter
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Mar 8, 2022 | RCV002496380.8 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 9, 2024 | RCV003914848.1 |
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. |
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Pathogenic
(Apr 12, 2016)
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criteria provided, single submitter
Method: clinical testing
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beta Thalassemia
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697076.1
First in ClinVar: Mar 22, 2017 Last updated: Mar 22, 2017 |
Comment:
Variant summary: The c.126_129delCTTT variant results in a premature termination codon, predicted to cause a truncated or absent HBB protein, which is a commonly known … (more)
Variant summary: The c.126_129delCTTT variant results in a premature termination codon, predicted to cause a truncated or absent HBB protein, which is a commonly known mechanism for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g.c.135delC, c.143_146dupATCT). Mutation taster predicts damaging outcome for this variant. This variant is found in 33/121370 control chromosomes at a frequency of 0.0002719, which does not exceed maximal expected frequency of a pathogenic allele (0.0111803). This variant is reported in the literatures as a well-known pathogenic variant predominantly identified in East and South Asian. In addition, multiple reputable databases classified this variant as pathogenic. Taken together, this variant was classified as pathogenic. (less)
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Likely pathogenic
(Oct 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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Beta-thalassemia HBB/LCRB
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000914517.1
First in ClinVar: May 27, 2019 Last updated: May 27, 2019 |
Comment:
The HBB c.126_129delCTTT (p.Phe42LeufsTer19) variant, also described as codon 41/42 (-CTTT) or codon 41/42 (-TTCT), results in a frameshift and is predicted to result in … (more)
The HBB c.126_129delCTTT (p.Phe42LeufsTer19) variant, also described as codon 41/42 (-CTTT) or codon 41/42 (-TTCT), results in a frameshift and is predicted to result in premature truncation of the protein. This variant is particularly prevalent in the Chinese population and is usually associated with a beta-thalassemia phenotype (Lin et al. 2014; Zhang et al. 2015; Yu et al. 2015; Origa et al 2015). Across a selection of the available literature, the p.Phe42LeufsTer19 variant has been identified in a homozygous state in one individual and in a compound heterozygous state in seven individuals, all with beta-thalassemia (Kimura et al. 1983; Hernanda et al. 2012; Huang et al. 2014; Italia et al. 2015; Rujito et al. 2015). Control data are unavailable for this variant, which is reported at a frequency of 0.00496 in the East Asian population of the 1000 Genomes. Based on the evidence and the potential impact of frameshift variants, the p.Phe42LeufsTer19 variant is interpreted as pathogenic for beta-thalassemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Hb SS disease
Affected status: unknown
Allele origin:
germline
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Baylor Genetics
Accession: SCV001163653.1
First in ClinVar: Feb 29, 2020 Last updated: Feb 29, 2020 |
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Pathogenic
(Aug 29, 2017)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics and Genomics, Karolinska University Hospital
Accession: SCV001449897.1
First in ClinVar: Dec 12, 2020 Last updated: Dec 12, 2020 |
Number of individuals with the variant: 2
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Pathogenic
(Nov 04, 2016)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000601240.2
First in ClinVar: Sep 30, 2017 Last updated: Jan 03, 2022 |
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Pathogenic
(Mar 08, 2022)
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criteria provided, single submitter
Method: clinical testing
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Heinz body anemia
Hereditary persistence of fetal hemoglobin Dominant beta-thalassemia Hb SS disease alpha Thalassemia Malaria, susceptibility to Beta-thalassemia HBB/LCRB Methemoglobinemia, beta-globin type Erythrocytosis, familial, 6
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002813078.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Nov 03, 2021)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000748427.5
First in ClinVar: Sep 30, 2017 Last updated: Mar 04, 2023 |
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This … (more)
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 20181291, 22975760, 6826539, 11224481, 24200214, 28635337, 26096776, 30487145, 30945812, 31111750, 31930713, 30275481, 10870880, 33198537, 8091935) (less)
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Beta-thalassemia HBB/LCRB
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Lifecell International Pvt. Ltd
Accession: SCV003845971.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023 |
Comment:
A Heterozygous Frameshift variant c.126_129delCTTT in Exon 2 of the HBB gene that results in the premature termination of the protein (p.Phe42fs*19) was identified. The … (more)
A Heterozygous Frameshift variant c.126_129delCTTT in Exon 2 of the HBB gene that results in the premature termination of the protein (p.Phe42fs*19) was identified. The observed variant has a minor allele frequency of 0.00028% in gnomAD exomes and genomes, respectively. The severity of the impact of this variant on the protein is high, based on the effect ofthe protein and REVEL score . Rare Exome Variant Ensemble Learner (REVEL) is an ensembl method for predicting the pathogenicity of missense variants based on a combination ofscores from 13 individual tools: MutPred, FATHMM v2.3, VEST 3.0, PolyPhen-2, SIFT, PROVEAN, MutationAssessor, MutationTaster, LRT, GERP++, SiPhy, phyloP, and phastCons.The REVEL score for an individual missense variant can range from 0 to 1, with higher scores reflecting greater likelihood that the variant is disease-causing. The variant was found inClinVar (Variant ID :15417) with a classification of Pathogenic/Likely Pathogenic and a review status of (2 star) criteria provided, multiple submitters, no conflicts. The variant is reported in many patients with beta thalassemia (Chen W et al.,2010). Based on the above evidence this variant has been classified as Pathogenic according to the ACMG guidelines. (less)
Ethnicity/Population group: Asian
Geographic origin: India
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Beta-thalassemia HBB/LCRB
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Neuberg Centre For Genomic Medicine, NCGM
Accession: SCV004047359.1
First in ClinVar: Oct 28, 2023 Last updated: Oct 28, 2023 |
Comment:
This variant c.126_129del (p.Phe42LeufsTer19) in HBB gene has been observed in the homozygous and compound heterozygous state in several individuals with HBB-related conditions (Kimura A … (more)
This variant c.126_129del (p.Phe42LeufsTer19) in HBB gene has been observed in the homozygous and compound heterozygous state in several individuals with HBB-related conditions (Kimura A et al., 1983). This sequence change creates a premature translational stop signal (p.Phe42Leufs*19) in the HBB gene. It is expected to result in an absent or disrupted protein product. This variant is present in the gnomAD database with a frequency of 0.03%. Loss-of-function variants in HBB are known to be pathogenic (Craig JE et al., 1994). This variant has been reported to the ClinVar database as Pathogenic. For these reasons, this variant has been classified as Pathogenic. (less)
Clinical Features:
Abnormal bone marrow cell morphology (present) , Epistaxis (present) , Aplastic anemia (present)
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Pathogenic
(Jan 06, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002024957.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Nov 21, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001157958.8
First in ClinVar: Feb 10, 2020 Last updated: Feb 20, 2024 |
Comment:
The HBB c.126_129del; p.Phe42LeufsTer19 variant (also known as Phe41fs when numbered from the mature protein or as codon 41/42-TTCT, rs80356821, HbVar ID: 849) has been … (more)
The HBB c.126_129del; p.Phe42LeufsTer19 variant (also known as Phe41fs when numbered from the mature protein or as codon 41/42-TTCT, rs80356821, HbVar ID: 849) has been reported in the homozygous and compound heterozygous states in individuals affected with beta(0) thalassemia (see link to HbVar, Kimura 1983). It is reported as pathogenic by multiple laboratories in ClinVar (Variation ID: 15417) and is observed in the general population at an overall frequency of 0.02% (73/282786 alleles) with increased frequency in the East Asian population (0.2%) in the Genome Aggregation Database. This variant creates a frameshift by deleting 4 nucleotides, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Link to HbVar: https://globin.bx.psu.edu/hbvar/hbvar.html Kimura A et al. Structural analysis of a beta-thalassemia gene found in Taiwan. J Biol Chem. 1983 Mar 10;258(5):2748-9. PMID: 6826539. (less)
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Pathogenic
(Jan 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000956689.6
First in ClinVar: Aug 14, 2019 Last updated: Feb 28, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Phe42Leufs*19) in the HBB gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Phe42Leufs*19) in the HBB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HBB are known to be pathogenic (PMID: 23637309). This variant is present in population databases (rs281864900, gnomAD 0.2%). This premature translational stop signal has been observed in individuals with HBB-related conditions (PMID: 6826539, 25089872, 28635337). ClinVar contains an entry for this variant (Variation ID: 15417). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jan 09, 2024)
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criteria provided, single submitter
Method: clinical testing
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HBB-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004732710.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
The HBB c.126_129delCTTT variant is predicted to result in a frameshift and premature protein termination (p.Phe42Leufs*19). This variant was reported in individuals with beta-thalassemia (see … (more)
The HBB c.126_129delCTTT variant is predicted to result in a frameshift and premature protein termination (p.Phe42Leufs*19). This variant was reported in individuals with beta-thalassemia (see for example Kazazian et al. 1984. PubMed ID: 6714226; Lau et al. 1997. PubMed ID: 9113933; Lin et al. 2021. PubMed ID: 34271589). This variant is reported in 0.23% of alleles in individuals of East Asian descent in gnomAD. Frameshift variants in HBB are expected to be pathogenic. This variant is interpreted as pathogenic. (less)
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Pathogenic
(Mar 22, 2017)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
germline
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Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
Accession: SCV000610030.1
First in ClinVar: Sep 30, 2017 Last updated: Sep 30, 2017 |
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Pathogenic
(Dec 09, 2019)
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criteria provided, single submitter
Method: clinical testing
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Beta-thalassemia HBB/LCRB
Affected status: unknown
Allele origin:
unknown
|
Myriad Genetics, Inc.
Accession: SCV001194030.2
First in ClinVar: Apr 06, 2020 Last updated: Jul 06, 2020 |
Comment:
NM_000518.4(HBB):c.126_129delCTTT(F42Lfs*19) is classified as pathogenic in the context of Hb beta chain-related hemoglobinopathy; it is associated with beta thalassemia and is classified as a beta-zero … (more)
NM_000518.4(HBB):c.126_129delCTTT(F42Lfs*19) is classified as pathogenic in the context of Hb beta chain-related hemoglobinopathy; it is associated with beta thalassemia and is classified as a beta-zero variant. Sources cited for classification include the following: PMID 6826539, 25000193, 6714226 and 25480500. Classification of NM_000518.4(HBB):c.126_129delCTTT(F42Lfs*19) is based on the following criteria: The variant causes a premature termination codon that is expected to be targeted by nonsense-mediated mRNA decay and is reported in individuals with the relevant phenotype. Please note: this variant was assessed in the context of healthy population screening. (less)
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Pathogenic
(Jan 01, 2019)
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criteria provided, single submitter
Method: clinical testing
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Hereditary persistence of fetal hemoglobin
Affected status: no
Allele origin:
unknown
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001441069.1
First in ClinVar: Oct 31, 2020 Last updated: Oct 31, 2020 |
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Pathogenic
(Nov 25, 2015)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002677342.1
First in ClinVar: Nov 29, 2022 Last updated: Nov 29, 2022 |
Comment:
The c.126_129delCTTT pathogenic mutation (also known as codons 41/42 (-TTCT) and c.124_127delTTCT), located in coding exon 2 of the HBB gene, results from a deletion … (more)
The c.126_129delCTTT pathogenic mutation (also known as codons 41/42 (-TTCT) and c.124_127delTTCT), located in coding exon 2 of the HBB gene, results from a deletion of 4 nucleotides between positions 126 and 129, causing a translational frameshift with a predicted alternate stop codon (p.F42Lfs*19). This mutation is associated with beta0-thalassemia and was originally reported as homozygous in a Chinese patient (Kimura A et al. J Biol Chem. 1983;258(5):2748-9). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
Number of individuals with the variant: 1
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Pathogenic
(Nov 04, 2021)
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criteria provided, single submitter
Method: clinical testing
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Beta-thalassemia HBB/LCRB
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Genetics and Molecular Pathology, SA Pathology
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002556512.2
First in ClinVar: Aug 08, 2022 Last updated: Dec 17, 2022 |
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Pathogenic
(Sep 28, 2002)
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no assertion criteria provided
Method: literature only
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BETA-ZERO-THALASSEMIA
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000036943.3
First in ClinVar: Apr 04, 2013 Last updated: May 09, 2018 |
Comment on evidence:
Frameshift, -4, codons 41/42, TTCTTT to TT, was found in an Asian Indian with beta-zero-thalassemia (613985) by Kazazian et al. (1984) and in Chinese by … (more)
Frameshift, -4, codons 41/42, TTCTTT to TT, was found in an Asian Indian with beta-zero-thalassemia (613985) by Kazazian et al. (1984) and in Chinese by Kimura et al. (1983). Lau et al. (1997) found that the deletion of CTTT at codons 41/42 accounted for 40% of all beta-thalassemia alleles in Hong Kong. Chiu et al. (2002) designed allele-specific primers and a fluorescent probe for detection of this mutation in the HBB gene from maternal plasma by real-time PCR. Using this method, they showed that beta-thalassemia major could be excluded from fetal inheritance by demonstrating absence of inheritance of the paternally transmitted mutation. By studying circulating fetal DNA in the maternal plasma for this mutation, Chiu et al. (2002) added beta-thalassemia to the list of disorders that could be prenatally diagnosed using this noninvasive method, which had previously demonstrated usefulness in diagnosing sex-linked diseases (Costa et al., 2002) and fetal rhesus D status (Lo et al., 1998). (less)
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Pathogenic
(Nov 25, 2019)
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no assertion criteria provided
Method: curation
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beta Thalassemia
Affected status: unknown
Allele origin:
germline
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The ITHANET community portal, The Cyprus Institute of Neurology and Genetics
Accession: SCV001244545.1
First in ClinVar: Apr 24, 2020 Last updated: Apr 24, 2020 |
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Pathogenic
(Mar 17, 2017)
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no assertion criteria provided
Method: clinical testing
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Beta thalassemia
Affected status: unknown
Allele origin:
germline
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Natera, Inc.
Accession: SCV002089222.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
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not provided
(-)
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no classification provided
Method: literature only
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beta Thalassemia
Affected status: unknown
Allele origin:
germline
|
GeneReviews
Accession: SCV000040704.4
First in ClinVar: Apr 04, 2013 Last updated: Oct 01, 2022 |
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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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Beta-Thalassemia. | Adam MP | - | 2024 | PMID: 20301599 |
Complex Interaction of Hb Q-Thailand (HBA1: c.223G>C) with β-Thalassemia/Hb E (HBB: c.79G>A) Disease. | Panyasai S | Hemoglobin | 2018 | PMID: 29484903 |
Population-Based Genetic Study of β-Thalassemia Mutations in Mardan Division, Khyber Pakhtunkhwa Province, Pakistan. | Muhammad R | Hemoglobin | 2017 | PMID: 28635337 |
Molecular Scanning of β-Thalassemia in the Southern Region of Central Java, Indonesia; a Step Towards a Local Prevention Program. | Rujito L | Hemoglobin | 2015 | PMID: 26291967 |
Molecular Epidemiological Investigation of Thalassemia in the Chengdu Region, Sichuan Province, Southwest China. | Yu X | Hemoglobin | 2015 | PMID: 26290351 |
Genetic heterogeneity of the β-globin gene in various geographic populations of Yunnan in southwestern China. | Zhang J | PloS one | 2015 | PMID: 25849334 |
A genetic score for the prediction of beta-thalassemia severity. | Danjou F | Haematologica | 2015 | PMID: 25480500 |
Variable phenotypes of sickle cell disease in India with the Arab-Indian haplotype. | Italia K | British journal of haematology | 2015 | PMID: 25135424 |
High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population. | Lin M | PloS one | 2014 | PMID: 25089872 |
Molecular epidemiological characterization and health burden of thalassemia in Jiangxi Province, P. R. China. | Lin M | PloS one | 2014 | PMID: 25000193 |
Coexistence of two β-globin gene deletions in a Chinese girl with β-thalassemia minor. | Huang G | Hemoglobin | 2014 | PMID: 24200214 |
The molecular basis of β-thalassemia. | Thein SL | Cold Spring Harbor perspectives in medicine | 2013 | PMID: 23637309 |
Towards a prevention program for β-thalassemia. The molecular spectrum in East Java, Indonesia. | Hernanda PY | Hemoglobin | 2012 | PMID: 22188014 |
The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity. | Chen W | BMC medical genetics | 2010 | PMID: 20181291 |
[Genetic study on 27 children with beta-thalassemia major and their parents in Sichuan area]. | Li XH | Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition | 2004 | PMID: 15181845 |
Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. | Chiu RW | Lancet (London, England) | 2002 | PMID: 12383672 |
New strategy for prenatal diagnosis of X-linked disorders. | Costa JM | The New England journal of medicine | 2002 | PMID: 12000828 |
Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. | Lo YM | The New England journal of medicine | 1998 | PMID: 9845707 |
Prevalence and genotypes of alpha- and beta-thalassemia carriers in Hong Kong -- implications for population screening. | Lau YL | The New England journal of medicine | 1997 | PMID: 9113933 |
Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3' end TAG-->GAG in a Chinese patient. | Chiou SS | British journal of haematology | 1993 | PMID: 8435318 |
Molecular characterization of seven beta-thalassemia mutations in Asian Indians. | Kazazian HH Jr | The EMBO journal | 1984 | PMID: 6714226 |
Structural analysis of a beta-thalassemia gene found in Taiwan. | Kimura A | The Journal of biological chemistry | 1983 | PMID: 6826539 |
https://ithanet.eu/db/ithagenes?ithaID=147 | - | - | - | - |
Kazazian, H. H., Jr. Personal Communication. 1982. Baltimore, Md. | - | - | - | - |
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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.