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NM_000518.4(HBB):c.374C>T (p.Pro125Leu) AND HEMOGLOBIN TENDE

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:
RCV000016836.3

Allele description [Variation Report for NM_000518.4(HBB):c.374C>T (p.Pro125Leu)]

NM_000518.4(HBB):c.374C>T (p.Pro125Leu)

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.374C>T (p.Pro125Leu)
Other names:
P124L
HGVS:
  • NC_000011.10:g.5225668G>A
  • NG_000007.3:g.71948C>T
  • NG_046672.1:g.3603G>A
  • NG_053049.1:g.1989G>A
  • NG_059281.1:g.6404C>T
  • NM_000518.5:c.374C>TMANE SELECT
  • NP_000509.1:p.Pro125Leu
  • LRG_1232t1:c.374C>T
  • LRG_1232:g.6404C>T
  • LRG_1232p1:p.Pro125Leu
  • NC_000011.9:g.5246898G>A
  • NM_000518.4:c.374C>T
Protein change:
P125L; PRO124LEU
Links:
HBVAR: 518; OMIM: 141900.0481; dbSNP: rs33983276
NCBI 1000 Genomes Browser:
rs33983276
Molecular consequence:
  • NM_000518.5:c.374C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN TENDE
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037106OMIM
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

Hb Tende [beta124(H2)Pro-->Leu]: a new variant with a moderate increase in oxygen affinity.

Wajcman H, Kister J, Préhu C, Riou J, Godart C, Bardakdjian J, Soummer AM, Promé D, Galactéros F.

Hemoglobin. 1998 Sep-Nov;22(5-6):517-23. No abstract available.

PubMed [citation]
PMID:
9859935

Details of each submission

From OMIM, SCV000037106.4

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

Description

By chromatographic measurement of glycated Hb in a 90-year-old woman of French origin, Wajcman et al. (1998) identified a novel hemoglobin variant, termed Hb Tende, that showed a moderate increase in oxygen affinity. Sequencing of the HBB gene revealed a CCA-to-CTA transition, resulting in a pro124-to-leu substitution. Three hemoglobin variants at amino acid 124 had been previously described: Hb Tunis (pro124 to ser; 141900.0288) is asymptomatic; Hb Khartoum (pro124 to arg; 141900.0148) is mildly unstable; and Hb Ty Gard (pro124 to gln; 141900.0289) is responsible for increased oxygen affinity leading to erythrocytosis. Wajcman et al. (1998) suggested that the absence of erythrocytosis in the Hb Tende carrier whom they studied was likely due to the relatively low proportion of abnormal Hb (34%), possibly explained by the mild instability revealed by the isopropanol test, and to the normal cooperativity of the variant.

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

Last Updated: Mar 4, 2023