Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000518.4(HBB):c.430C>T (p.His144Tyr)

Help
Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: May 19, 2021)
Last evaluated:
May 4, 2021
Accession:
VCV000015565.5
Variation ID:
15565
Description:
single nucleotide variant
Help

NM_000518.4(HBB):c.430C>T (p.His144Tyr)

Allele ID
30604
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.4
Genomic location
11: 5246842 (GRCh37) GRCh37 UCSC
11: 5225612 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.5225612G>A
NC_000011.9:g.5246842G>A
NG_000007.3:g.72004C>T
... more HGVS
Protein change
H144Y
Other names
H143Y
Hb Old Dominion/Burton-upon-Trent
Canonical SPDI
NC_000011.10:5225611:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00001
Links
HBVAR: 566
ClinGen: CA125454
OMIM: 141900.0477
dbSNP: rs33929415
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, single submitter May 4, 2021 RCV000016831.6
Likely benign 1 criteria provided, single submitter Oct 8, 2019 RCV001285481.2
Help
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
LOC107133510 - - - GRCh38 - 1226
LOC110006319 - - - GRCh38 - 575

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Oct 08, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001471914.1
Submitted: (Dec 11, 2020)
Evidence details
Likely benign
(May 04, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001623263.1
Submitted: (May 19, 2021)
Evidence details
Publications
PubMed (4)
Comment:
Variant summary: HBB c.430C>T [p.His144Tyr; also known as Hb Old Dominion/Burton-upon-Trent (OD/BuT) and as legacy name p.His143Tyr] results in a conservative amino acid change located … (more)
Benign
(Dec 12, 2017)
no assertion criteria provided
Method: literature only
HEMOGLOBIN BURTON-UPON-TRENT
Allele origin: germline
OMIM
Accession: SCV000037101.5
Submitted: (Jul 20, 2016)
Evidence details
Publications
PubMed (3)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Impact of single nucleotide polymorphisms in HBB gene causing haemoglobinopathies: in silico analysis. George Priya Doss C New biotechnology 2009 PMID: 19429541
Hb Old Dominion/Burton-upon-Trent or beta143(H21)His-->Tyr, found in a diabetic woman from Korea. Plaseska-Karanfilska D Hemoglobin 2000 PMID: 11186263
Two unrelated cases of Hb Old Dominion/Burton-upon-Trent [beta143(H21)His-->Tyr]: a rare variant causing spuriously elevated Hb A1c values. Gilbert AT Hemoglobin 2000 PMID: 10870890
A second case of Hb Bologna-St. Orsola [beta146(HC3)His-->Tyr] in an unrelated family of Anglo-Celtic origin. Gilbert AT Hemoglobin 2000 PMID: 10870885
Hemoglobin Old Dominion/Burton-upon-Trent, beta 143 (H21) His-->Tyr, codon 143 CAC-->TAC--a variant with altered oxygen affinity that compromises measurement of glycated hemoglobin in diabetes mellitus: structure, function, and DNA sequence. Elder GE Mayo Clinic proceedings 1998 PMID: 9559035

Text-mined citations for rs33929415...

Help
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 27, 2021