NM_138711.6(PPARG):c.752A>G (p.Asn251Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 17, 2021
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:: RCV002016240.6

Allele description [Variation Report for NM_138711.6(PPARG):c.752A>G (p.Asn251Ser)]

NM_138711.6(PPARG):c.752A>G (p.Asn251Ser)

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.752A>G (p.Asn251Ser)

HGVS:

NC_000003.12:g.12416726A>G
NG_011749.1:g.133877A>G
NM_001330615.4:c.729+10645A>G
NM_001354666.3:c.752A>G
NM_001354667.3:c.752A>G
NM_001354669.2:c.125A>G
NM_001374261.3:c.729+10645A>G
NM_001374262.3:c.729+10645A>G
NM_001374263.2:c.752A>G
NM_001374264.2:c.752A>G
NM_001374265.1:c.819+10645A>G
NM_001374266.1:c.653+10727A>G
NM_005037.7:c.752A>G
NM_015869.5:c.842A>G
NM_138711.6:c.752A>GMANE SELECT
NM_138712.5:c.752A>G
NP_001341595.2:p.Asn251Ser
NP_001341596.2:p.Asn251Ser
NP_001341598.1:p.Asn42Ser
NP_001361192.2:p.Asn251Ser
NP_001361193.2:p.Asn251Ser
NP_005028.5:p.Asn251Ser
NP_056953.2:p.Asn281Ser
NP_619725.3:p.Asn251Ser
NP_619726.3:p.Asn251Ser
NC_000003.11:g.12458225A>G

Protein change:

N251S

Links:

dbSNP: rs935360461

NCBI 1000 Genomes Browser:

rs935360461

Molecular consequence:

NM_001330615.4:c.729+10645A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001374261.3:c.729+10645A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001374262.3:c.729+10645A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001374265.1:c.819+10645A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001374266.1:c.653+10727A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354666.3:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354667.3:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354669.2:c.125A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374263.2:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001374264.2:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_005037.7:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_015869.5:c.842A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_138711.6:c.752A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_138712.5:c.752A>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
SCV002297655	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 17, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002297655

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 17, 2021)

germline

clinical testing

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

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002297655.3

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

Description

Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with PPARG-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with serine at codon 281 of the PPARG protein (p.Asn281Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. 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: Sep 29, 2024

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