NM_000237.3(LPL):c.953A>G (p.Asn318Ser) AND Hyperapobetalipoproteinemia

Clinical significance:Pathogenic (Last evaluated: Dec 3, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000001615.2

Allele description

NM_000237.3(LPL):c.953A>G (p.Asn318Ser)

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.953A>G (p.Asn318Ser)
HGVS:
  • NC_000008.11:g.19956018A>G
  • NG_008855.1:g.21948A>G
  • NM_000237.3:c.953A>G
  • NP_000228.1:p.Asn318Ser
  • NC_000008.10:g.19813529A>G
  • NM_000237.2:c.953A>G
  • P06858:p.Asn318Ser
Protein change:
N291S; ASN291SER
Links:
UniProtKB: P06858#VAR_004239; OMIM: 609708.0033; dbSNP: rs268
NCBI 1000 Genomes Browser:
rs268
Molecular consequence:
  • NM_000237.3:c.953A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hyperapobetalipoproteinemia (FCHL)
Synonyms:
Hyperlipidemia, familial combined
Identifiers:
MedGen: C0020474; OMIM: 144250; Human Phenotype Ontology: HP:0008158

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021771OMIMno assertion criteria providedPathogenic
(Sep 1, 1995)
germlineliterature only

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

SCV000746401Genomic Research Center,Shahid Beheshti University of Medical Sciencescriteria provided, single submitter
Pathogenic
(Dec 3, 2017)
inheritedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia.

Reymer PW, Groenemeyer BE, Gagné E, Miao L, Appelman EE, Seidel JC, Kromhout D, Bijvoet SM, van de Oever K, Bruin T, et al.

Hum Mol Genet. 1995 Sep;4(9):1543-9.

PubMed [citation]
PMID:
8541837

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From OMIM, SCV000021771.1

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

Description

In 20 of 169 unrelated male patients suffering from familial combined hyperlipidemia (FCHL; 144250), Reymer et al. (1995) found a nucleotide substitution in exon 6 of the LPL gene resulting in an asn291-to-ser substitution (N291S). This mutation was also present in 15 male controls, albeit at a lower frequency: 4.6% in controls versus 11.8% in FCHL patients (p less than 0.02). An association was demonstrated between the N291S substitution and decreased HDL cholesterol. FCHL patients carrying this mutation showed decreased HDL cholesterol and increased triglyceride levels compared to noncarriers.

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

From Genomic Research Center,Shahid Beheshti University of Medical Sciences, SCV000746401.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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