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NM_000041.4(APOE):c.497TCC[1] (p.Leu167del) AND Sea-blue histiocyte syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Nov 1, 2005
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:
RCV000202536.11

Allele description [Variation Report for NM_000041.4(APOE):c.497TCC[1] (p.Leu167del)]

NM_000041.4(APOE):c.497TCC[1] (p.Leu167del)

Gene:
APOE:apolipoprotein E [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_000041.4(APOE):c.497TCC[1] (p.Leu167del)
Other names:
NM_000041.2:c.499_501delCTC; NP_000032.1:p.Leu149del
HGVS:
  • NC_000019.10:g.44908793TCC[1]
  • NG_007084.2:g.8012TCC[1]
  • NM_000041.3:c.500_502del
  • NM_000041.4:c.497TCC[1]MANE SELECT
  • NM_001302688.2:c.575TCC[1]
  • NM_001302689.2:c.497TCC[1]
  • NM_001302690.2:c.497TCC[1]
  • NM_001302691.2:c.497TCC[1]
  • NP_000032.1:p.Leu167del
  • NP_001289617.1:p.Leu193del
  • NP_001289618.1:p.Leu167del
  • NP_001289619.1:p.Leu167del
  • NP_001289620.1:p.Leu167del
  • NC_000019.9:g.45412050TCC[1]
  • NM_000041.2:c.500_502delTCC
Protein change:
L167del
Links:
OMIM: 107741.0031; dbSNP: rs515726148
NCBI 1000 Genomes Browser:
rs515726148
Molecular consequence:
  • NM_000041.4:c.497TCC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001302688.2:c.575TCC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001302689.2:c.497TCC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001302690.2:c.497TCC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001302691.2:c.497TCC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Sea-blue histiocyte syndrome
Synonyms:
Sea-Blue histiocyte disease; Sea-blue histiocytosis
Identifiers:
MONDO: MONDO:0010017; MedGen: C0036489; Orphanet: 158029; OMIM: 269600; Human Phenotype Ontology: HP:0001982

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000039755OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 2005)
germlineliterature only

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

SCV000148007GeneReviews
no classification provided
not providedgermlineliterature only

Summary from all submissions

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

Citations

PubMed

Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)].

Nguyen TT, Kruckeberg KE, O'Brien JF, Ji ZS, Karnes PS, Crotty TB, Hay ID, Mahley RW, O'Brien T.

J Clin Endocrinol Metab. 2000 Nov;85(11):4354-8.

PubMed [citation]
PMID:
11095479

Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation.

Faivre L, Saugier-Veber P, Pais de Barros JP, Verges B, Couret B, Lorcerie B, Thauvin C, Charbonnier F, Huet F, Gambert P, Frebourg T, Duvillard L.

Eur J Hum Genet. 2005 Nov;13(11):1186-91.

PubMed [citation]
PMID:
16094309

Details of each submission

From OMIM, SCV000039755.4

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

Description

Nguyen et al. (2000) reported 2 kindreds in which the sea-blue histiocyte syndrome (269600) was associated with an apoE variant in the absence of severe dyslipidemia. Both patients presented with mild hypertriglyceridemia and splenomegaly. After splenectomy both patients developed severe hypertriglyceridemia. Pathologic evaluation of the spleen revealed the presence of sea-blue histiocytes. An APOE mutation was found: a 3-bp deletion resulting in the loss of leucine-149 in the receptor-binding region of APOE (delta149 leu). Although the probands were unrelated, they were of French Canadian ancestry, suggesting the possibility of a founder effect.

In 2 brothers with splenomegaly, thrombocytopenia, and hypertriglyceridemia, Faivre et al. (2005) identified the delta149 leu mutation in the APOE gene. Their mother, who also had the mutation, had only isolated hypertriglyceridemia. One brother had a large beta band in the VLDL fraction and an elevated VLDL cholesterol-to-plasma triglyceride ratio; Faivre et al. (2005) suggested that the more severe phenotype might be explained by the presence of an APOE2 allele (107741.0001) in this patient.

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

From GeneReviews, SCV000148007.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 12, 2024