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NM_000518.5(HBB):c.328G>C (p.Val110Leu)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Dec 31, 2020)
Last evaluated:
Sep 4, 2019
Accession:
VCV000015230.3
Variation ID:
15230
Description:
single nucleotide variant
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NM_000518.5(HBB):c.328G>C (p.Val110Leu)

Allele ID
30269
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.4
Genomic location
11: 5225714 (GRCh38) GRCh38 UCSC
11: 5246944 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.5225714C>G
NC_000011.9:g.5246944C>G
NG_000007.3:g.71902G>C
... more HGVS
Protein change
V110L
Other names
V109L
Canonical SPDI
NC_000011.10:5225713:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA124969
OMIM: 141900.0140
dbSNP: rs33969677
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Sep 4, 2019 RCV001284154.1
HEMOGLOBIN JOHNSTOWN
other 1 no assertion criteria provided Dec 12, 2017 RCV000016428.4
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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
LOC107133510 - - - GRCh38 - 1226
LOC110006319 - - - GRCh38 - 575

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 04, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001469780.1
Submitted: (Dec 31, 2020)
Evidence details
Publications
PubMed (5)
Comment:
Found in at least one patient with expected phenotype for this gene. Predicted to have a tolerated effect on the protein. Assessment of experimental evidence … (more)
other
(Dec 12, 2017)
no assertion criteria provided
Method: literature only
HEMOGLOBIN JOHNSTOWN
Allele origin: germline
OMIM
Accession: SCV000036696.4
Submitted: (Jul 20, 2016)
Evidence details
Publications
PubMed (2)

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
Symptomatic erythrocytosis associated with a compound heterozygosity for Hb Lepore-Boston-Washington (δ87-β116) and Hb Johnstown [β109(G11)Val→Leu, GTG>TTG]. Inoue S Hemoglobin 2012 PMID: 22563907
Familial polycythemia caused by a novel mutation in the beta globin gene: essential role of P50 in evaluation of familial polycythemia. Agarwal N International journal of medical sciences 2007 PMID: 17952198
Hb Johnstown [beta109(G11)Val-->Leu]: A high oxygen affinity variant associated with beta0-thalassemia. Feliu-Torres A Hemoglobin 2004 PMID: 15658189
Hb Johnstown [beta 109 (G11) Val-->Leu]: second case described and associated for the first time with beta(0)-thalassemia in two Spanish families. Ropero P American journal of hematology 2000 PMID: 11074558
Hb Johnstown [beta 109 (G11) Val----Leu]: a new electrophoretically silent variant that causes erythrocytosis. Jones RT Hemoglobin 1990 PMID: 2272838

Text-mined citations for rs33969677...

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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 27, 2021