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NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) AND LIPOPROTEIN LIPASE POLYMORPHISM

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 15, 1992
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:
RCV000001598.2

Allele description [Variation Report for NM_000237.3(LPL):c.1421C>G (p.Ser474Ter)]

NM_000237.3(LPL):c.1421C>G (p.Ser474Ter)

Gene:
LPL:lipoprotein lipase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8p21.3
Genomic location:
Preferred name:
NM_000237.3(LPL):c.1421C>G (p.Ser474Ter)
Other names:
S447*; LPL, SER447TER (rs328)
HGVS:
  • NC_000008.11:g.19962213C>G
  • NG_008855.2:g.65497C>G
  • NM_000237.3:c.1421C>GMANE SELECT
  • NP_000228.1:p.Ser474Ter
  • LRG_1298t1:c.1421C>G
  • LRG_1298:g.65497C>G
  • LRG_1298p1:p.Ser474Ter
  • NC_000008.10:g.19819724C>G
  • NG_008855.1:g.28143C>G
  • NM_000237.2:c.1421C>G
Protein change:
S474*; SER447TER
Links:
OMIM: 609708.0014; dbSNP: rs328
NCBI 1000 Genomes Browser:
rs328
Molecular consequence:
  • NM_000237.3:c.1421C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
LIPOPROTEIN LIPASE POLYMORPHISM
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000021754OMIM
no assertion criteria provided
Benign
(Jan 15, 1992) 		germlineliterature only

PubMed (2)
[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

Catalytic triad residue mutation (Asp156----Gly) causing familial lipoprotein lipase deficiency. Co-inheritance with a nonsense mutation (Ser447----Ter) in a Turkish family.

Faustinella F, Chang A, Van Biervliet JP, Rosseneu M, Vinaimont N, Smith LC, Chen SH, Chan L.

J Biol Chem. 1991 Aug 5;266(22):14418-24. Erratum in: J Biol Chem 1992 Apr 5;267(10):7194.

PubMed [citation]
PMID:
1907278

A heterozygous mutation (the codon for Ser447----a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia.

Kobayashi J, Nishida T, Ameis D, Stahnke G, Schotz MC, Hashimoto H, Fukamachi I, Shirai K, Saito Y, Yoshida S.

Biochem Biophys Res Commun. 1992 Jan 15;182(1):70-7.

PubMed [citation]
PMID:
1731801

Details of each submission

From OMIM, SCV000021754.1

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

Description

See 609708.0013. Although Faustinella et al. (1991) considered this a polymorphism of no functional significance, Kobayashi et al. (1992), who found it in heterozygous state in a patient with LPL deficiency (238600), thought it might contribute. Both parents had about half-normal LPL activity; hence, the heterozygous S447X mutation cannot be solely responsible for type I hyperlipidemia in that case.

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

Last Updated: Oct 13, 2024