NM_138711.6(PPARG):c.806A>G (p.Gln269Arg) AND not provided

Germline classification:: Uncertain significance (1 submission)
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:: RCV001356245.1

Allele description [Variation Report for NM_138711.6(PPARG):c.806A>G (p.Gln269Arg)]

NM_138711.6(PPARG):c.806A>G (p.Gln269Arg)

Gene:

PPARG:peroxisome proliferator activated receptor gamma [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.2

Genomic location:

Preferred name:

NM_138711.6(PPARG):c.806A>G (p.Gln269Arg)

HGVS:

NC_000003.12:g.12416780A>G
NG_011749.1:g.133931A>G
NM_001330615.4:c.729+10699A>G
NM_001354666.3:c.806A>G
NM_001354667.3:c.806A>G
NM_001354669.2:c.179A>G
NM_001374261.3:c.729+10699A>G
NM_001374262.3:c.729+10699A>G
NM_001374263.2:c.806A>G
NM_001374264.2:c.806A>G
NM_001374265.1:c.819+10699A>G
NM_001374266.1:c.653+10781A>G
NM_005037.7:c.806A>G
NM_015869.5:c.896A>G
NM_138711.6:c.806A>GMANE SELECT
NM_138712.5:c.806A>G
NP_001341595.2:p.Gln269Arg
NP_001341596.2:p.Gln269Arg
NP_001341598.1:p.Gln60Arg
NP_001361192.2:p.Gln269Arg
NP_001361193.2:p.Gln269Arg
NP_005028.5:p.Gln269Arg
NP_056953.2:p.Gln299Arg
NP_619725.3:p.Gln269Arg
NP_619726.3:p.Gln269Arg
NC_000003.11:g.12458279A>G

Protein change:

Q269R

Links:

dbSNP: rs2125284211

NCBI 1000 Genomes Browser:

rs2125284211

Molecular consequence:

NM_001330615.4:c.729+10699A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001374261.3:c.729+10699A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001374262.3:c.729+10699A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001374265.1:c.819+10699A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001374266.1:c.653+10781A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354666.3:c.806A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354667.3:c.806A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354669.2:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374263.2:c.806A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374264.2:c.806A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005037.7:c.806A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_015869.5:c.896A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_138711.6:c.806A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_138712.5:c.806A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001551360	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Uncertain significance	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001551360

Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided

Uncertain significance

unknown

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001551360.1

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

Description

The PPARG p.Gln271Arg variant was not identified in the literature nor was it identified in dbSNP, ClinVar, Cosmic, LOVD 3.0 or in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017).The p.Gln271 residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence however in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a greater than 10% difference in splicing. However, this information is not predictive enough to assume pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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

Last Updated: Dec 24, 2023

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