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

Clinical significance:other (Last evaluated: Dec 12, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000016428.4

Allele description [Variation Report for NM_000518.5(HBB):c.328G>C (p.Val110Leu)]

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

Genes:
LOC110006319:beta-globin gene 3' regulatory region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.328G>C (p.Val110Leu)
Other names:
V109L
HGVS:
  • NC_000011.10:g.5225714C>G
  • NG_000007.3:g.71902G>C
  • NG_046672.1:g.3649C>G
  • NG_053049.1:g.2035C>G
  • NG_059281.1:g.6358G>C
  • NM_000518.5:c.328G>CMANE SELECT
  • NP_000509.1:p.Val110Leu
  • LRG_1232t1:c.328G>C
  • LRG_1232:g.6358G>C
  • LRG_1232p1:p.Val110Leu
  • NC_000011.9:g.5246944C>G
  • NM_000518.4:c.328G>C
Protein change:
V110L; VAL109LEU
Links:
OMIM: 141900.0140; dbSNP: rs33969677
NCBI 1000 Genomes Browser:
rs33969677
Molecular consequence:
  • NM_000518.5:c.328G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN JOHNSTOWN
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036696OMIMno assertion criteria providedother
(Dec 12, 2017)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Hb Johnstown [beta 109 (G11) Val----Leu]: a new electrophoretically silent variant that causes erythrocytosis.

Jones RT, Saiontz HI, Head C, Shih DT, Fairbanks VF.

Hemoglobin. 1990;14(2):147-56.

PubMed [citation]
PMID:
2272838

Hb Johnstown [beta109(G11)Val-->Leu]: A high oxygen affinity variant associated with beta0-thalassemia.

Feliu-Torres A, Eberle SE, Roldán A, González S, Sciuccati G.

Hemoglobin. 2004;28(4):335-8.

PubMed [citation]
PMID:
15658189

Details of each submission

From OMIM, SCV000036696.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

See Jones et al. (1990).

Hb Johnstown, caused by a change of codon 109 in exon 3 of the HBB gene from GTG (val) to CTG (leu) (val109 to leu), is a high oxygen affinity hemoglobin variant. Feliu-Torres et al. (2004) identified Hb Johnstown in association with beta-zero-thalassemia of the IVS1AS-1G-A (141900.0356) type in an 8-year-old girl referred because of erythrocytosis and a left-shifted oxygen dissociation curve. The mother was found to be heterozygous for the Hb variant and the father was a beta-zero-thalassemia carrier. This Hb variant had normal electrophoresis. The erythrocytosis and low values for actual P50 due to Hb Johnstown were more marked due to the coinheritance of the beta-zero-thalassemia.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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