NM_138711.6(PPARG):c.1281A>G (p.Ser427=) AND multiple conditions

Germline classification:: Benign (1 submission)
Last evaluated:: Apr 30, 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:: RCV002502316.3

Allele description [Variation Report for NM_138711.6(PPARG):c.1281A>G (p.Ser427=)]

NM_138711.6(PPARG):c.1281A>G (p.Ser427=)

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.1281A>G (p.Ser427=)

HGVS:

NC_000003.12:g.12433998A>G
NG_011749.1:g.151149A>G
NM_001330615.4:c.*83A>G
NM_001354666.3:c.1281A>G
NM_001354667.3:c.1281A>G
NM_001354669.2:c.654A>G
NM_001374261.3:c.*83A>G
NM_001374262.3:c.*83A>G
NM_001374263.2:c.1281A>G
NM_001374264.2:c.1281A>G
NM_001374265.1:c.*83A>G
NM_001374266.1:c.*67A>G
NM_005037.7:c.1281A>G
NM_015869.5:c.1371A>G
NM_138711.6:c.1281A>GMANE SELECT
NM_138712.5:c.1281A>G
NP_001341595.2:p.Ser427=
NP_001341596.2:p.Ser427=
NP_001341598.1:p.Ser218=
NP_001361192.2:p.Ser427=
NP_001361193.2:p.Ser427=
NP_005028.5:p.Ser427=
NP_056953.2:p.Ser457=
NP_056953.2:p.Ser457=
NP_619725.3:p.Ser427=
NP_619726.3:p.Ser427=
NC_000003.11:g.12475497A>G
NM_015869.4:c.1371A>G

Links:

dbSNP: rs41516544

NCBI 1000 Genomes Browser:

rs41516544

Molecular consequence:

NM_001330615.4:c.*83A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001374261.3:c.*83A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001374262.3:c.*83A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001374265.1:c.*83A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001374266.1:c.*67A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001354666.3:c.1281A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354667.3:c.1281A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001354669.2:c.654A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001374263.2:c.1281A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001374264.2:c.1281A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_005037.7:c.1281A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_015869.5:c.1371A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_138711.6:c.1281A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_138712.5:c.1281A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: PPARG-related familial partial lipodystrophy
Synonyms:: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS; Familial partial lipodystrophy 3
Identifiers:: MONDO: MONDO:0011448; MedGen: C1720861; Orphanet: 79083; OMIM: 604367

Name:: Carotid intimal medial thickness 1 (IMT1)
Synonyms:: INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY
Identifiers:: MedGen: C1836302; OMIM: 609338

Name:: Type 2 diabetes mellitus
Synonyms:: DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus; Diabetes mellitus, noninsulin-dependent, late onset
Identifiers:: MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978

Name:: Obesity
Synonyms:: Obesity disorder
Identifiers:: MONDO: MONDO:0011122; MeSH: D009765; MedGen: C0028754; Orphanet: 71529; Human Phenotype Ontology: HP:0001513

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002809391	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Apr 30, 2022)	unknown	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

SCV002809391

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Apr 30, 2022)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002809391.1

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

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

Last Updated: Nov 18, 2024

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