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NM_000237.3(LPL):c.112G>A (p.Glu38Lys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 30, 2022
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:
RCV003169360.1

Allele description

NM_000237.3(LPL):c.112G>A (p.Glu38Lys)

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.112G>A (p.Glu38Lys)
HGVS:
  • NC_000008.11:g.19948203G>A
  • NG_008855.2:g.51487G>A
  • NM_000237.3:c.112G>AMANE SELECT
  • NP_000228.1:p.Glu38Lys
  • LRG_1298t1:c.112G>A
  • LRG_1298:g.51487G>A
  • LRG_1298p1:p.Glu38Lys
  • NC_000008.10:g.19805714G>A
  • NG_008855.1:g.14133G>A
  • NM_000237.2:c.112G>A
Protein change:
E38K
Links:
dbSNP: rs557015233
NCBI 1000 Genomes Browser:
rs557015233
Molecular consequence:
  • NM_000237.3:c.112G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003858510Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Nov 30, 2022) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS, Wang J, McIntyre AD, Iacocca MA, Robinson JF, Ban MR, Cao H, Hegele RA.

BMC Med Genomics. 2020 Feb 10;13(1):23. doi: 10.1186/s12920-020-0669-2.

PubMed [citation]
PMID:
32041611
PMCID:
PMC7011550

Combined hyperlipidemia is genetically similar to isolated hypertriglyceridemia.

Gill PK, Dron JS, Berberich AJ, Wang J, McIntyre AD, Cao H, Hegele RA.

J Clin Lipidol. 2021 Jan-Feb;15(1):79-87. doi: 10.1016/j.jacl.2020.11.006. Epub 2020 Nov 24.

PubMed [citation]
PMID:
33303402

Details of each submission

From Ambry Genetics, SCV003858510.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.E38K variant (also known as c.112G>A), located in coding exon 2 of the LPL gene, results from a G to A substitution at nucleotide position 112. The glutamic acid at codon 38 is replaced by lysine, an amino acid with similar properties. This variant has been detected in cohorts with mixed dyslipidemias; however, clinical detail was limited (Dron JS et al. BMC Med Genomics, 2020 Feb;13:23; Gill PK et al. J Clin Lipidol, 2021 Nov;15:79-87). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Feb 20, 2024