NM_000518.5(HBB):c.61G>A (p.Val21Met) AND HEMOGLOBIN OLYMPIA

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:: RCV000016533.13

Allele description [Variation Report for NM_000518.5(HBB):c.61G>A (p.Val21Met)]

NM_000518.5(HBB):c.61G>A (p.Val21Met)

Genes:

LOC106099062:HBB recombination 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.61G>A (p.Val21Met)

Other names:

V20M

HGVS:

NC_000011.10:g.5226961C>T
NG_000007.3:g.70655G>A
NG_042296.1:g.492C>T
NG_046672.1:g.4896C>T
NG_059281.1:g.5111G>A
NM_000518.5:c.61G>AMANE SELECT
NP_000509.1:p.Val21Met
LRG_1232t1:c.61G>A
LRG_1232:g.5111G>A
LRG_1232p1:p.Val21Met
NC_000011.9:g.5248191C>T
NM_000518.4:c.61G>A
P68871:p.Val21Met

Protein change:

V21M; VAL20MET

Links:

UniProtKB: P68871#VAR_002889; OMIM: 141900.0210; dbSNP: rs35890959

NCBI 1000 Genomes Browser:

rs35890959

Molecular consequence:

NM_000518.5:c.61G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: HEMOGLOBIN OLYMPIA
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036801	OMIM	no assertion criteria provided	other (Dec 12, 2017)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 4683875, 6745619, 3691763

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036801

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

Hemoglobin olympia ( 20 valine leads to methionine): an electrophoretically silent variant associated with high oxygen affinity and erythrocytosis.

Stamatoyannopoulos G, Nute PE, Adamson JW, Bellingham AJ, Funk D.

J Clin Invest. 1973 Feb;52(2):342-9.

PubMed [citation]

PMID:: 4683875
PMCID:: PMC302263

Iron overload in three generations of a family with hemoglobin Olympia.

Weaver GA, Rahbar S, Ellsworth CA, de Alarcon PA, Forbes GB, Beutler E.

Gastroenterology. 1984 Sep;87(3):695-702.

PubMed [citation]

PMID:: 6745619

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000036801.5

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

Description

Since GUG to AUG is the only single base change that can result in this substitution, the codon for beta 20 can be uniquely identified as GUG. See Stamatoyannopoulos et al. (1973) and Weaver et al. (1984). Berlin and Wranne (1989) described hemoglobin Olympia in a Swedish family.

#	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: Nov 24, 2024

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