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NM_000305.3(PON2):c.293G>A (p.Arg98Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 28, 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:
RCV001194159.1

Allele description [Variation Report for NM_000305.3(PON2):c.293G>A (p.Arg98Gln)]

NM_000305.3(PON2):c.293G>A (p.Arg98Gln)

Gene:
PON2:paraoxonase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.3
Genomic location:
Preferred name:
NM_000305.3(PON2):c.293G>A (p.Arg98Gln)
HGVS:
  • NC_000007.14:g.95412386C>T
  • NG_008725.1:g.27687G>A
  • NM_000305.3:c.293G>AMANE SELECT
  • NM_001018161.2:c.293G>A
  • NP_000296.2:p.Arg98Gln
  • NP_001018171.1:p.Arg98Gln
  • NC_000007.13:g.95041698C>T
  • NM_000305.2:c.293G>A
Protein change:
R98Q
Links:
dbSNP: rs374262764
NCBI 1000 Genomes Browser:
rs374262764
Molecular consequence:
  • NM_000305.3:c.293G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001018161.2:c.293G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001363468Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(May 28, 2019) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Novel common and rare genetic determinants of paraoxonase activity: FTO, SERPINA12, and ITGAL.

Kim DS, Burt AA, Crosslin DR, Robertson PD, Ranchalis JE, Boyko EJ, Nickerson DA, Furlong CE, Jarvik GP.

J Lipid Res. 2013 Feb;54(2):552-60. doi: 10.1194/jlr.P033266. Epub 2012 Nov 15.

PubMed [citation]
PMID:
23160181
PMCID:
PMC3588879

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001363468.1

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

Description

Variant summary: PON2 c.293G>A (p.Arg98Gln) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251420 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.293G>A in individuals affected with Early Onset Coronary Artery Disease and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. However, our internal database reports the variant to co-occur with a pathogenic LDLR variant. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Apr 23, 2022