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NM_000518.5(HBB):c.-80T>A

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 2, 2020
Accession:
VCV000015467.12
Variation ID:
15467
Description:
single nucleotide variant
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NM_000518.5(HBB):c.-80T>A

Allele ID
30506
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.4
Genomic location
11: 5227101 (GRCh38) GRCh38 UCSC
11: 5248331 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.5227101A>T
NC_000011.9:g.5248331A>T
NG_000007.3:g.70515T>A
... more HGVS
Protein change
-
Other names
-30T>A
-30 (T>A)
-30T-A, PROMOTER
Canonical SPDI
NC_000011.10:5227100:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
HBVAR: 765
ClinGen: CA125326
Genetic Testing Registry (GTR): GTR000500319
OMIM: 141900.0377
dbSNP: rs33980857
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Sep 2, 2020 RCV000508486.4
Pathogenic 3 criteria provided, single submitter Aug 18, 2011 RCV000029962.3
Pathogenic 1 criteria provided, single submitter Oct 5, 2018 RCV001000147.2
Pathogenic 1 no assertion criteria provided Jan 1, 1992 RCV000016725.29
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HBB - - GRCh38
GRCh37
45 1293
LOC106099062 - - - GRCh38 - 702
LOC107133510 - - - GRCh38 - 1226

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
pathogenic
(Aug 18, 2011)
criteria provided, single submitter
Method: curation, clinical testing
Beta Thalassemia
(autosomal recessive)
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000052617.2
Submitted: (Aug 18, 2011)
Evidence details
Publications
PubMed (2)
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Apr 20, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000601320.1
Submitted: (Aug 01, 2017)
Evidence details
Publications
PubMed (3)
Pathogenic
(Oct 05, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001156632.1
Submitted: (Aug 05, 2019)
Evidence details
Comment:
The HBB c.-80T>A variant, also known as -30 (T>A), is published in the medical literature in individuals with beta thalassemia intermedia when in the homozygous … (more)
Likely pathogenic
(Sep 02, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000941728.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This variant occurs in a non-coding region of the HBB gene. It does not change the encoded amino acid sequence of the HBB protein. The … (more)
Pathogenic
(Jan 01, 1992)
no assertion criteria provided
Method: literature only
BETA-PLUS-THALASSEMIA
Allele origin: germline
OMIM
Accession: SCV000036995.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)
Pathogenic
(May 14, 2015)
no assertion criteria provided
Method: literature only
beta Thalassemia
Allele origin: germline
GeneReviews
Accession: SCV000537289.1
Submitted: (May 14, 2015)
Evidence details
Other databases
https://www.ncbi.nlm.nih.gov/boo…
Pathogenic
(Nov 25, 2019)
no assertion criteria provided
Method: curation
beta Thalassemia
Allele origin: germline
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics
Accession: SCV001244528.1
Submitted: (Nov 25, 2019)
Evidence details
Publications
PubMed (1)
Other databases
https://ithanet.eu/db/ithagenes?…

Functional evidence

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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 this variant

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Title Author Journal Year Link
Beta-Thalassemia Origa R - 2021 PMID: 20301599
Severe β-thalassemia intermedia in a compound heterozygous patient for the -30 (T>A) β(+)-thalassemia mutation and the δ(0)β(+)-Senegalese deletion. Griffon C Hemoglobin 2010 PMID: 20854126
ThalassoChip, an array mutation and single nucleotide polymorphism detection tool for the diagnosis of β-thalassaemia. Shammas C Clinical chemistry and laboratory medicine 2010 PMID: 20704537
Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders. Fiorentino F Human reproduction (Oxford, England) 2006 PMID: 16311287
The T-->A mutation at position -30 of the beta-globin gene found in a Karachai patient with beta-thalassemia intermedia. Fedorov AN Hemoglobin 1992 PMID: 1487424
The beta-thalassaemia mutations in the population of Cyprus. Baysal E British journal of haematology 1992 PMID: 1390250
Beta-thalassemia, HB S-beta-thalassemia and sickle cell anemia among Tunisians. Fattoum S Hemoglobin 1991 PMID: 1917531
Beta-thalassemia due to a T----A mutation within the ATA box. Fei YJ Biochemical and biophysical research communications 1988 PMID: 3382401
https://ithanet.eu/db/ithagenes?ithaID=22 - - - -
https://www.ncbi.nlm.nih.gov/books/NBK1426/ - - - -

Text-mined citations for rs33980857...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 28, 2021