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NM_000518.4(HBB):c.365A>T (p.Glu122Val) AND HEMOGLOBIN BEOGRAD

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:
RCV000016264.5

Allele description [Variation Report for NM_000518.4(HBB):c.365A>T (p.Glu122Val)]

NM_000518.4(HBB):c.365A>T (p.Glu122Val)

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_000518.4(HBB):c.365A>T (p.Glu122Val)
Other names:
E121V
HGVS:
  • NC_000011.10:g.5225677T>A
  • NG_000007.3:g.71939A>T
  • NG_046672.1:g.3612T>A
  • NG_053049.1:g.1998T>A
  • NG_059281.1:g.6395A>T
  • NM_000518.5:c.365A>TMANE SELECT
  • NP_000509.1:p.Glu122Val
  • LRG_1232t1:c.365A>T
  • LRG_1232:g.6395A>T
  • LRG_1232p1:p.Glu122Val
  • NC_000011.9:g.5246907T>A
  • P68871:p.Glu122Val
Protein change:
E122V; GLU121VAL
Links:
HBVAR: 512; UniProtKB: P68871#VAR_003050; OMIM: 141900.0020; dbSNP: rs33987957
NCBI 1000 Genomes Browser:
rs33987957
Molecular consequence:
  • NM_000518.5:c.365A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN BEOGRAD
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036532OMIM
no assertion criteria provided
other
(Dec 12, 2017) 		germlineliterature only

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Hemoglobin Beograd or alpha 2 beta 2 121 Glu-Val (GH4).

Efremov GD, Duma H, Ruvidic R, Rolovic Z, Wilson JB, Huisman TH.

Biochim Biophys Acta. 1973 Nov 11;328(1):81-3. No abstract available.

PubMed [citation]
PMID:
4761994

Haemoglobin Camperdown beta104(G6) arginine leads to serine.

Wilkinson T, Chua CG, Carrell RW, Robin H, Exner T, Lee KM, Kronenberg H.

Biochim Biophys Acta. 1975 May 30;393(1):195-200.

PubMed [citation]
PMID:
1138922
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000036532.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)

Description

See Efremov et al. (1973), Wilkinson et al. (1975), and Ruvidic et al. (1975).

Akar et al. (1995) described a dual restriction enzyme digestion protocol for discriminating between Hb Beograd and Hb D (Los Angeles) (glu121 to gln) when they occur in the same population. Both of these variants migrate like HbS on cellulose acetate electrophoresis. Hb O (Arab) (glu121 to lys; 141900.0202) represents no problem because that variant migrates differently on cellulose acetate electrophoresis. Also, the glu121-to-ter mutation (141900.0314) represents no problem because it is associated with a thalassemia phenotype. Other codon 121 mutations are Hb D (Neath) (glu121 to-ala; 141900.0445) and Hb St. Francis (glu121 to gly; 141900.0412).

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

Last Updated: Jul 15, 2024