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NM_000518.4(HBB):c.320T>C (p.Leu107Pro) AND HEMOGLOBIN CASPER

Germline classification:
other (1 submission)
Last evaluated:
Jan 1, 1976
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:
RCV000016606.5

Allele description [Variation Report for NM_000518.4(HBB):c.320T>C (p.Leu107Pro)]

NM_000518.4(HBB):c.320T>C (p.Leu107Pro)

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.320T>C (p.Leu107Pro)
Other names:
L106P
HGVS:
  • NC_000011.10:g.5225722A>G
  • NG_000007.3:g.71894T>C
  • NG_046672.1:g.3657A>G
  • NG_053049.1:g.2043A>G
  • NG_059281.1:g.6350T>C
  • NM_000518.5:c.320T>CMANE SELECT
  • NP_000509.1:p.Leu107Pro
  • LRG_1232t1:c.320T>C
  • LRG_1232:g.6350T>C
  • LRG_1232p1:p.Leu107Pro
  • NC_000011.9:g.5246952A>G
Protein change:
L107P; LEU106PRO
Links:
HBVAR: 475; OMIM: 141900.0265; dbSNP: rs33941844
NCBI 1000 Genomes Browser:
rs33941844
Molecular consequence:
  • NM_000518.5:c.320T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN CASPER
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036875OMIM
no assertion criteria provided
other
(Jan 1, 1976) 		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

Haemoglobin Southampton, 106 (G8) Leu leads to pro: an unstable variant producing severe haemolysis.

Hyde RD, Hall MD, Wiltshire BG, Lehmann H.

Lancet. 1972 Dec 2;2(7788):1170-2. No abstract available.

PubMed [citation]
PMID:
4117593

Hemoglobin Willamette (alpha2beta2 51Pro replaced by Apg (D2)) a new abnormal human hemoglobin.

Jones RT, Koler RD, Duerst ML, Dhindsa DS.

Hemoglobin. 1976-1977;1(1):45-57.

PubMed [citation]
PMID:
1052170
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000036875.5

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

Description

See Hyde et al. (1972), Jones et al. (1973), and Koler et al. (1973), who described Hb Southampton (Casper) as a leu106-to-pro substitution in the HBB gene.

Nusapan and Conant (2023) noted that Hb Southampton (Casper) is a rare unstable hemoglobinopathy caused by a c.320T-C transition in the HBB gene, resulting in a leu107-to-pro (L107P) substitution. The mutation results in distortion of the tertiary structure of the hemoglobin molecule, leading to membrane damage and RBC destruction. Hepatosplenomegaly, chronic hemolytic anemia, and methemoglobinemia are common features. Macrocytosis is sometimes observed.

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

Last Updated: Jun 9, 2024