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NM_000518.5(HBB):c.262A>C (p.Thr88Pro) AND HEMOGLOBIN VALLETTA

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:
RCV000016749.3

Allele description [Variation Report for NM_000518.5(HBB):c.262A>C (p.Thr88Pro)]

NM_000518.5(HBB):c.262A>C (p.Thr88Pro)

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.262A>C (p.Thr88Pro)
Other names:
T87P
HGVS:
  • NC_000011.10:g.5226630T>G
  • NG_000007.3:g.70986A>C
  • NG_042296.1:g.161T>G
  • NG_046672.1:g.4565T>G
  • NG_053049.1:g.2951T>G
  • NG_059281.1:g.5442A>C
  • NM_000518.5:c.262A>CMANE SELECT
  • NP_000509.1:p.Thr88Pro
  • LRG_1232t1:c.262A>C
  • LRG_1232:g.5442A>C
  • LRG_1232p1:p.Thr88Pro
  • NC_000011.9:g.5247860T>G
  • NM_000518.4:c.262A>C
  • P68871:p.Thr88Pro
Protein change:
T88P; THR87PRO
Links:
UniProtKB: P68871#VAR_002992; OMIM: 141900.0400; dbSNP: rs35553496
NCBI 1000 Genomes Browser:
rs35553496
Molecular consequence:
  • NM_000518.5:c.262A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN VALLETTA
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037019OMIM
no assertion criteria provided
other
(Dec 12, 2017) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

The linkage of Hb Valletta [alpha 2 beta 287(f3)Thr----Pro] and Hb F-Malta-I [alpha 2G gamma 2117(G19)His----Arg] in the Maltese population.

Kutlar F, Felice AE, Grech JL, Bannister WH, Kutlar A, Wilson JB, Webber BB, Hu HY, Huisman TH.

Hum Genet. 1991 Apr;86(6):591-4.

PubMed [citation]
PMID:
1709134

Details of each submission

From OMIM, SCV000037019.4

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

Description

Kutlar et al. (1991) described a new hemoglobin variant called Hb Valletta, which is characterized by a threonine-to-proline substitution at position 87 of the beta chain. This mutation was found to be linked to that of the gamma-chain variant Hb F-Malta-I (142250.0014) which has a his-to-arg mutation at position 117 of the G-gamma chain. The 2 genes are 27 to 28 kb apart. No chromosomes with one or the other mutation alone were identified.

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

Last Updated: Jul 15, 2024