NM_000518.5(HBB):c.425T>G (p.Leu142Arg) AND HEMOGLOBIN OLMSTED

Germline classification:: other (1 submission)
Last evaluated:: Dec 12, 2017
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000016531.5

Allele description [Variation Report for NM_000518.5(HBB):c.425T>G (p.Leu142Arg)]

NM_000518.5(HBB):c.425T>G (p.Leu142Arg)

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.425T>G (p.Leu142Arg)

Other names:

L141R

HGVS:

NC_000011.10:g.5225617A>C
NG_000007.3:g.71999T>G
NG_046672.1:g.3552A>C
NG_053049.1:g.1938A>C
NG_059281.1:g.6455T>G
NM_000518.4:c.425T>G
NM_000518.5:c.425T>GMANE SELECT
NP_000509.1:p.Leu142Arg
LRG_1232t1:c.425T>G
LRG_1232:g.6455T>G
LRG_1232p1:p.Leu142Arg
NC_000011.9:g.5246847A>C
P68871:p.Leu142Arg

Protein change:

L142R; LEU141ARG

Links:

UniProtKB: P68871#VAR_003083; OMIM: 141900.0208; dbSNP: rs35854892

NCBI 1000 Genomes Browser:

rs35854892

Molecular consequence:

NM_000518.5:c.425T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN OLMSTED
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036799	OMIM	no assertion criteria provided	other (Dec 12, 2017)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 5780360, 5492847, 8579053

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036799

OMIM

no assertion criteria provided

other
(Dec 12, 2017)

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Three families with unstable hemoglobinopathies (Köln, Olmsted and Santa Ana) causing hemolytic anemia with inclusion bodies and pigmenturia.

Fairbanks VF, Opfell RW, Burgert EO Jr.

Am J Med. 1969 Mar;46(3):344-59. No abstract available.

PubMed [citation]

PMID:: 5780360

Two new pathological haemoglobins: Olmsted beta 141 (H19) Leu leads to Arg and Malmö beta 97 (FG4) His leads to Gln.

Lorkin PA, Lehmann H.

Biochem J. 1970 Oct;119(5):68P. No abstract available.

PubMed [citation]

PMID:: 5492847
PMCID:: PMC1179554

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000036799.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

See Fairbanks et al. (1969) and Lorkin and Lehmann (1970). Thuret et al. (1996) described a second case of this unstable hemoglobin. The clinical course of a 12-year-old boy was characterized by severe hemolytic anemia leading to splenectomy and cholecystectomy at the age of 3.5 years. Priapism occurred 8 years after splenectomy, during a hemolytic febrile episode, and required aspiration of the corpora cavernosa. Splenectomy in cases of chronic hemolytic anemia due to an unstable hemoglobin lowers the frequency and severity of acute hemolytic attacks but vascular complications often occur. The original patient with Hb Olmsted, described by Fairbanks et al. (1969) died of chronic pulmonary disease with pulmonary hypertension at age 36 years. The patient reported by Thuret et al. (1996) had a French mother and Spanish father.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 6, 2024

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