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NM_000237.3(LPL):c.686A>G (p.His229Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 30, 2019
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:
RCV001757810.2

Allele description [Variation Report for NM_000237.3(LPL):c.686A>G (p.His229Arg)]

NM_000237.3(LPL):c.686A>G (p.His229Arg)

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.686A>G (p.His229Arg)
HGVS:
  • NC_000008.11:g.19954264A>G
  • NG_008855.2:g.57548A>G
  • NM_000237.3:c.686A>GMANE SELECT
  • NP_000228.1:p.His229Arg
  • LRG_1298t1:c.686A>G
  • LRG_1298:g.57548A>G
  • LRG_1298p1:p.His229Arg
  • NC_000008.10:g.19811775A>G
  • NM_000237.2:c.686A>G
Protein change:
H229R
Links:
dbSNP: rs1287351470
NCBI 1000 Genomes Browser:
rs1287351470
Molecular consequence:
  • NM_000237.3:c.686A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001987721GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Uncertain significance
(Sep 30, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001987721.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in a patient with hepatomegaly and hypertriglyceridemia who is compound heterozygous for another missense variant in the LPL gene (Rabacchi et al., 2015); This variant is associated with the following publications: (PMID: 25966443, 28391895)

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

Last Updated: Dec 24, 2023