NM_000518.5(HBB):c.233A>G (p.His78Arg) AND HEMOGLOBIN COSTA RICA

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:
RCV000016822.3

Allele description [Variation Report for NM_000518.5(HBB):c.233A>G (p.His78Arg)]

NM_000518.5(HBB):c.233A>G (p.His78Arg)

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.233A>G (p.His78Arg)
Other names:
H77R; Hb Costa Rica
HGVS:
  • NC_000011.10:g.5226659T>C
  • NG_000007.3:g.70957A>G
  • NG_042296.1:g.190T>C
  • NG_046672.1:g.4594T>C
  • NG_053049.1:g.2980T>C
  • NG_059281.1:g.5413A>G
  • NM_000518.5:c.233A>GMANE SELECT
  • NP_000509.1:p.His78Arg
  • LRG_1232t1:c.233A>G
  • LRG_1232:g.5413A>G
  • LRG_1232p1:p.His78Arg
  • NC_000011.9:g.5247889T>C
  • NM_000518.4:c.233A>G
  • P68871:p.His78Arg
Protein change:
H78R; HIS77ARG
Links:
HBVAR: 395; UniProtKB: P68871#VAR_002980; OMIM: 141900.0469; dbSNP: rs33952543
NCBI 1000 Genomes Browser:
rs33952543
Molecular consequence:
  • NM_000518.5:c.233A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN COSTA RICA
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037092OMIM
no assertion criteria provided
other
(Dec 12, 2017) 		unknownliterature only

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

Bradley, T. B., Wohl, R. C., Murphy, S. B., Oski, F. A., Bunn, H. F. Properties of hemoglobin Bryn Mawr, beta85 phe-to-ser, a new spontaneous mutation producing an unstable hemoglobin with high oxygen affinity. (Abstract) Blood 40: 947, 1972.

Help

Summary from all submissions

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

Citations

PubMed

Hb Costa Rica or alpha 2 beta 2 77(EF1)His --> Arg: the first example of a somatic cell mutation in a globin gene.

Rodriguez Romero WE, Castillo M, Chaves MA, Saenz GF, Gu LH, Wilson JB, Baysal E, Smetanina NS, Leonova JY, Huisman TH.

Hum Genet. 1996 Jun;97(6):829-33.

PubMed [citation]
PMID:
8641705

The relative levels of different types of beta-mRNA and beta-globin in BFU-E derived colonies from patients with beta chain variants; further evidence for somatic mosaicism in the Hb Costa Rica carrier [beta 77(EF1)His-->Arg].

Smetanina NS, Gu LH, Rodriguez Romero WE, Howard EF, Huisman TH.

Hemoglobin. 1996 Aug;20(3):199-212.

PubMed [citation]
PMID:
8854130

Details of each submission

From OMIM, SCV000037092.4

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

Description

Rodriguez Romero et al. (1996) discovered an abnormal beta-chain hemoglobin Hb Costa Rica, or beta-his77arg, in a healthy young Costa Rican female. This stable hemoglobin, termed Hb Costa Rica, was present in only 6 to 8% of hemoglobin and was not observed in any relative (the father was not available for study). The expected CAC-to-CGC mutation could not be detected in genomic DNA. Smetanina et al. (1996) presented convincing evidence that the CAG-to-CGC mutation at codon 77 of the HBB gene had occurred as a somatic mutation during embryonic development and resulted in mosaicism with only 6 to 8% of the abnormal Hb Costa Rica in circulating red cells. Bradley et al. (1980) had described an instance of gonadal mosaicism accounting for an unusual pedigree pattern in a family with Hb Koln (141900.0151). Smetanina et al. (1996) incorrectly stated that theirs was the first example of mosaicism in a hematopoietic system.

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

Last Updated: Apr 23, 2022