Genetic polymorphisms of the ß-globin 3' enhancer ( RS12574989 together with two haplotypes ) were associated with population characteristics of increased HbA and decreased HbA2.
ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
risk factor
- Review status:
- no assertion criteria provided
- Submissions:
- 1
- First in ClinVar:
- Feb 26, 2022
- Most recent Submission:
- Oct 7, 2023
- Last evaluated:
- Aug 18, 2021
- Accession:
- VCV001217302.2
- Variation ID:
- 1217302
- Description:
- single nucleotide variant
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NC_000011.10:g.5225284C>T
- Allele ID
- 1207281
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 11p15.4
- Genomic location
- 11: 5225284 (GRCh38) GRCh38 UCSC
- 11: 5246514 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNC_000011.10:g.5225284C>T NC_000011.9:g.5246514C>T NG_000007.3:g.72332G>A NG_046672.1:g.3219C>T NG_053049.1:g.1605C>T NG_059281.1:g.6788G>A LRG_1232:g.6788G>A - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000011.10:5225283:C:T
- Functional consequence
- Uncertain function
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| risk factor | 1 | no assertion criteria provided | Aug 18, 2021 | RCV001838687.1 |
Help
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation viewer | Related variants | ||
|---|---|---|---|---|---|---|
| HI score Help | TS score Help | Within gene | All | |||
| LOC107133510 | - | - | - | GRCh38 | - | 1579 |
| LOC110006319 | - | - | - | GRCh38 | - | 828 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
risk factor
(Aug 18, 2021)
|
no assertion criteria provided
Method: case-control
|
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
Biochemical and Immune Lab of Obstetrics and Gynecology, The Third Affiliated Hospital of Guangzhou Medical University
Accession: SCV001809802.2
First in ClinVar: Feb 26, 2022 Last updated: Oct 07, 2023 |
Comment:
Genetic polymorphisms of the ß-globin 3' enhancer ( RS12574989 together with two haplotypes ) were associated with population characteristics of increased HbA and decreased HbA2.
Number of individuals with the variant: 87
Zygosity: 7 Homozygote, 80 Single Heterozygote
Age: 21-54 years
Sex: mixed
Comment on evidence:
There were some single nucleotide polymorphisms (SNPs) were identified in 3’ enhancer, and we found out that RS 12574989 together with two haplotype were associated … (more)
There were some single nucleotide polymorphisms (SNPs) were identified in 3’ enhancer, and we found out that RS 12574989 together with two haplotype were associated with the clinical grouping. Collectively, we identified the genetic polymorphisms of ß-globin 3’ enhancer was associated with population characteristic of HbA increase and HbA2 decrease. (less)
Method: The DNA segments were amplified by PCR using AceTaq Master Mix (Cat# P412, Vazyme, Nanjing, China) by primers of HS2, HS3, HS4 and 3’ enhancer .The segments was confirmed of size by agarose electrophoresis and sequenced using BigDye Terminator v3.1 Cycle Sequencing Kit (Cat#4337455, Thermo Fisher Scientific, CA, USA) according to the manufacturer's instructions.
|
Functional evidence
Help| Functional consequence | Method | Result | Submitter | More information |
|---|---|---|---|---|
|
Uncertain function
|
Biochemical and Immune Lab of Obstetrics and Gynecology, The Third Affiliated Hospital of Guangzhou Medical University
Accession: SCV001809802.2
First in ClinVar: Feb 26, 2022
Last updated: Oct 07, 2023
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Citations for this variant
Help| There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Record last updated Oct 07, 2023