NM_138711.6(PPARG):c.248C>A (p.Pro83Gln) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 9, 2024
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:: RCV002512915.2

Allele description

NM_138711.6(PPARG):c.248C>A (p.Pro83Gln)

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.248C>A (p.Pro83Gln)

Other names:

P115Q

HGVS:

NC_000003.12:g.12381349C>A
NG_011749.1:g.98500C>A
NM_001330615.4:c.248C>A
NM_001354666.3:c.248C>A
NM_001354667.3:c.248C>A
NM_001354668.2:c.338C>A
NM_001354669.2:c.-180C>A
NM_001354670.2:c.254C>A
NM_001374261.3:c.248C>A
NM_001374262.3:c.248C>A
NM_001374263.2:c.248C>A
NM_001374264.2:c.248C>A
NM_001374265.1:c.338C>A
NM_001374266.1:c.254C>A
NM_005037.7:c.248C>A
NM_015869.5:c.338C>A
NM_138711.6:c.248C>AMANE SELECT
NM_138712.5:c.248C>A
NP_001317544.2:p.Pro83Gln
NP_001341595.2:p.Pro83Gln
NP_001341596.2:p.Pro83Gln
NP_001341597.1:p.Pro113Gln
NP_001341599.1:p.Pro85Gln
NP_001361190.2:p.Pro83Gln
NP_001361191.2:p.Pro83Gln
NP_001361192.2:p.Pro83Gln
NP_001361193.2:p.Pro83Gln
NP_001361194.1:p.Pro113Gln
NP_001361195.1:p.Pro85Gln
NP_005028.5:p.Pro83Gln
NP_056953.2:p.Pro113Gln
NP_619725.3:p.Pro83Gln
NP_619726.3:p.Pro83Gln
NC_000003.11:g.12422848C>A

Protein change:

P113Q; PRO115GLN

Links:

OMIM: 601487.0001; dbSNP: rs1800571

NCBI 1000 Genomes Browser:

rs1800571

Molecular consequence:

NM_001354669.2:c.-180C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001330615.4:c.248C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354666.3:c.248C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354667.3:c.248C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354668.2:c.338C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354670.2:c.254C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374261.3:c.248C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374262.3:c.248C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374263.2:c.248C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374264.2:c.248C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374265.1:c.338C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001374266.1:c.254C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005037.7:c.248C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_015869.5:c.338C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_138711.6:c.248C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_138712.5:c.248C>A - 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
SCV003525311	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 9, 2024)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 9753710, 25157153, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003525311

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 9, 2024)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Obesity associated with a mutation in a genetic regulator of adipocyte differentiation.

Ristow M, Müller-Wieland D, Pfeiffer A, Krone W, Kahn CR.

N Engl J Med. 1998 Oct 1;339(14):953-9.

PubMed [citation]

PMID:: 9753710

Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.

Majithia AR, Flannick J, Shahinian P, Guo M, Bray MA, Fontanillas P, Gabriel SB; GoT2D Consortium.; NHGRI JHS/FHS Allelic Spectrum Project.; SIGMA T2D Consortium.; T2D-GENES Consortium., Rosen ED, Altshuler D.

Proc Natl Acad Sci U S A. 2014 Sep 9;111(36):13127-32. doi: 10.1073/pnas.1410428111. Epub 2014 Aug 25. Erratum in: Proc Natl Acad Sci U S A. 2014 Nov;11;111(45):16225. Estrada, Karol [added]; Mercader, Josep [added]; MacArthur, Daniel [added].

PubMed [citation]

PMID:: 25157153
PMCID:: PMC4246964

See all PubMed Citations (3)

Details of each submission

From Invitae, SCV003525311.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 113 of the PPARG protein (p.Pro113Gln). This variant is present in population databases (rs1800571, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PPARG-related conditions. This variant is also known as Pro115Gln. ClinVar contains an entry for this variant (Variation ID: 8130). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on PPARG function (PMID: 9753710, 25157153). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Feb 20, 2024

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