U.S. flag

An official website of the United States government

NM_000237.3(LPL):c.1323-187A>G AND High density lipoprotein cholesterol level quantitative trait locus 11

Germline classification:
association (1 submission)
Last evaluated:
Jan 10, 2013
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:
RCV000001625.4

Allele description [Variation Report for NM_000237.3(LPL):c.1323-187A>G]

NM_000237.3(LPL):c.1323-187A>G

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.1323-187A>G
HGVS:
  • NC_000008.11:g.19961928A>G
  • NG_008855.2:g.65212A>G
  • NM_000237.3:c.1323-187A>GMANE SELECT
  • LRG_1298t1:c.1323-187A>G
  • LRG_1298:g.65212A>G
  • NC_000008.10:g.19819439A>G
  • NG_008855.1:g.27858A>G
Nucleotide change:
A-G (rs326)
Links:
OMIM: 609708.0042; dbSNP: rs326
NCBI 1000 Genomes Browser:
rs326
Molecular consequence:
  • NM_000237.3:c.1323-187A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
High density lipoprotein cholesterol level quantitative trait locus 11 (HDLCQ11)
Identifiers:
MedGen: C1969232

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000021781OMIM
no assertion criteria provided
association
(Jan 10, 2013) 		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

Common single-nucleotide polymorphisms act in concert to affect plasma levels of high-density lipoprotein cholesterol.

Spirin V, Schmidt S, Pertsemlidis A, Cooper RS, Cohen JC, Sunyaev SR.

Am J Hum Genet. 2007 Dec;81(6):1298-303.

PubMed [citation]
PMID:
17952847
PMCID:
PMC2276349

Gain-of-function lipoprotein lipase variant rs13702 modulates lipid traits through disruption of a microRNA-410 seed site.

Richardson K, Nettleton JA, Rotllan N, Tanaka T, Smith CE, Lai CQ, Parnell LD, Lee YC, Lahti J, Lemaitre RN, Manichaikul A, Keller M, Mikkilä V, Ngwa J, van Rooij FJ, Ballentyne CM, Borecki IB, Cupples LA, Garcia M, Hofman A, Ferrucci L, Mozaffarian D, et al.

Am J Hum Genet. 2013 Jan 10;92(1):5-14. doi: 10.1016/j.ajhg.2012.10.020. Epub 2012 Dec 13.

PubMed [citation]
PMID:
23246289
PMCID:
PMC3542456

Details of each submission

From OMIM, SCV000021781.3

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

Description

In an association study of 7 HDL metabolism genes in participants in the Dallas Heart Study and in 849 African American men and women from Maywood, Illinois, Spirin et al. (2007) identified a SNP of the LPL gene, rs326, that was associated with incremental changes in HDL cholesterol levels in 3 independent samples (see HDLCQ11, 238600). This SNP achieved a P value of 3.49 x 10(-8) in analysis of covariance in the entire sample in a model that included race, sex, age, and body mass index (BMI). The A allele was associated with lowering of HDL cholesterol.

Richardson et al. (2013) showed that rs326 is in linkage disequilibrium with rs13702 (609708.0043), which is the functional variant in this LD region.

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

Last Updated: Dec 24, 2023