NM_138711.6(PPARG):c.924_928del (p.Asp308fs) AND PPARG-related familial partial lipodystrophy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 31, 2016
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:: RCV000499764.6

Allele description [Variation Report for NM_138711.6(PPARG):c.924_928del (p.Asp308fs)]

NM_138711.6(PPARG):c.924_928del (p.Asp308fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

3p25.2

Genomic location:

Preferred name:

NM_138711.6(PPARG):c.924_928del (p.Asp308fs)

HGVS:

NC_000003.12:g.12416893CTTGA[1]
NG_011749.1:g.134044CTTGA[1]
NM_001330615.4:c.729+10817_729+10821del
NM_001354666.3:c.924_928del
NM_001354667.3:c.924_928del
NM_001354669.2:c.297_301del
NM_001374261.3:c.729+10817_729+10821del
NM_001374262.3:c.729+10817_729+10821del
NM_001374263.2:c.924_928del
NM_001374264.2:c.924_928del
NM_001374265.1:c.819+10817_819+10821del
NM_001374266.1:c.653+10899_653+10903del
NM_005037.7:c.924_928del
NM_015869.5:c.1014_1018del
NM_138711.6:c.924_928delMANE SELECT
NM_138712.5:c.924_928del
NP_001341595.2:p.Asp308fs
NP_001341596.2:p.Asp308fs
NP_001341598.1:p.Asp99fs
NP_001361192.2:p.Asp308fs
NP_001361193.2:p.Asp308fs
NP_005028.5:p.Asp308fs
NP_056953.2:p.Asp338fs
NP_619725.3:p.Asp308fs
NP_619726.3:p.Asp308fs
NC_000003.11:g.12458392CTTGA[1]

Protein change:

D308fs

Links:

dbSNP: rs1553650477

NCBI 1000 Genomes Browser:

rs1553650477

Molecular consequence:

NM_001354666.3:c.924_928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354667.3:c.924_928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354669.2:c.297_301del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374263.2:c.924_928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374264.2:c.924_928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_005037.7:c.924_928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015869.5:c.1014_1018del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_138711.6:c.924_928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_138712.5:c.924_928del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330615.4:c.729+10817_729+10821del - intron variant - [Sequence Ontology: SO:0001627]
NM_001374261.3:c.729+10817_729+10821del - intron variant - [Sequence Ontology: SO:0001627]
NM_001374262.3:c.729+10817_729+10821del - intron variant - [Sequence Ontology: SO:0001627]
NM_001374265.1:c.819+10817_819+10821del - intron variant - [Sequence Ontology: SO:0001627]
NM_001374266.1:c.653+10899_653+10903del - intron variant - [Sequence Ontology: SO:0001627]

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

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thioesterase family protein [Pseudomonas khazarica]
thioesterase family protein [Pseudomonas khazarica]
gi|2024875978|gnl|PRJNA692848|JLK41 0|gb|QTS87037.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000596562	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 31, 2016)	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

SCV000596562

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Dec 31, 2016)

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	yes	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 Genetic Services Laboratory, University of Chicago, SCV000596562.1

#	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	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 9, 2023

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