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

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 3, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021771	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 1995)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000746401	Genomic Research Center,Shahid Beheshti University of Medical Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 3, 2017)	inherited	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021771

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 1995)

germline

literature only

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

SCV000746401

Genomic Research Center,Shahid Beheshti University of Medical Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 3, 2017)

inherited

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 31, 2019

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