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NM_138711.6(PPARG):c.1069C>T (p.Pro357Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 29, 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:
RCV002664292.2

Allele description [Variation Report for NM_138711.6(PPARG):c.1069C>T (p.Pro357Ser)]

NM_138711.6(PPARG):c.1069C>T (p.Pro357Ser)

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.1069C>T (p.Pro357Ser)
HGVS:
  • NC_000003.12:g.12417043C>T
  • NG_011749.1:g.134194C>T
  • NM_001330615.4:c.729+10962C>T
  • NM_001354666.3:c.1069C>T
  • NM_001354667.3:c.1069C>T
  • NM_001354669.2:c.442C>T
  • NM_001374261.3:c.729+10962C>T
  • NM_001374262.3:c.729+10962C>T
  • NM_001374263.2:c.1069C>T
  • NM_001374264.2:c.1069C>T
  • NM_001374265.1:c.819+10962C>T
  • NM_001374266.1:c.653+11044C>T
  • NM_005037.7:c.1069C>T
  • NM_015869.5:c.1159C>T
  • NM_138711.6:c.1069C>TMANE SELECT
  • NM_138712.5:c.1069C>T
  • NP_001341595.2:p.Pro357Ser
  • NP_001341596.2:p.Pro357Ser
  • NP_001341598.1:p.Pro148Ser
  • NP_001361192.2:p.Pro357Ser
  • NP_001361193.2:p.Pro357Ser
  • NP_005028.5:p.Pro357Ser
  • NP_056953.2:p.Pro387Ser
  • NP_619725.3:p.Pro357Ser
  • NP_619726.3:p.Pro357Ser
  • NC_000003.11:g.12458542C>T
Protein change:
P148S
Molecular consequence:
  • NM_001330615.4:c.729+10962C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374261.3:c.729+10962C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374262.3:c.729+10962C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374265.1:c.819+10962C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374266.1:c.653+11044C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354666.3:c.1069C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354667.3:c.1069C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354669.2:c.442C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374263.2:c.1069C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374264.2:c.1069C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005037.7:c.1069C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015869.5:c.1159C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138711.6:c.1069C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138712.5:c.1069C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003525312Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Mar 29, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Efficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants.

Sekizkardes H, Cochran E, Malandrino N, Garg A, Brown RJ.

J Clin Endocrinol Metab. 2019 Aug 1;104(8):3068-3076. doi: 10.1210/jc.2018-02787.

PubMed [citation]
PMID:
31194872
PMCID:
PMC6563798

Prospective functional classification of all possible missense variants in PPARG.

Majithia AR, Tsuda B, Agostini M, Gnanapradeepan K, Rice R, Peloso G, Patel KA, Zhang X, Broekema MF, Patterson N, Duby M, Sharpe T, Kalkhoven E, Rosen ED, Barroso I, Ellard S; UK Monogenic Diabetes Consortium., Kathiresan S; Myocardial Infarction Genetics Consortium., O'Rahilly S; UK Congenital Lipodystrophy Consortium., Chatterjee K, et al.

Nat Genet. 2016 Dec;48(12):1570-1575. doi: 10.1038/ng.3700. Epub 2016 Oct 17.

PubMed [citation]
PMID:
27749844
PMCID:
PMC5131844
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV003525312.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This missense change has been observed in individual(s) with clinical features of lipodystrophy syndrome (PMID: 27749844, 31194872). 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. Experimental studies have shown that this missense change affects PPARG function (PMID: 27749844). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 387 of the PPARG protein (p.Pro387Ser).

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

Last Updated: Feb 14, 2024