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NM_138711.6(PPARG):c.851A>C (p.Gln284Pro) AND Carcinoma of colon

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 1999
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000008609.4

Allele description [Variation Report for NM_138711.6(PPARG):c.851A>C (p.Gln284Pro)]

NM_138711.6(PPARG):c.851A>C (p.Gln284Pro)

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.851A>C (p.Gln284Pro)
Other names:
Q286P
HGVS:
  • NC_000003.12:g.12416825A>C
  • NG_011749.1:g.133976A>C
  • NM_001330615.4:c.729+10744A>C
  • NM_001354666.3:c.851A>C
  • NM_001354667.3:c.851A>C
  • NM_001354669.2:c.224A>C
  • NM_001374261.3:c.729+10744A>C
  • NM_001374262.3:c.729+10744A>C
  • NM_001374263.2:c.851A>C
  • NM_001374264.2:c.851A>C
  • NM_001374265.1:c.819+10744A>C
  • NM_001374266.1:c.653+10826A>C
  • NM_005037.7:c.851A>C
  • NM_015869.5:c.941A>C
  • NM_138711.6:c.851A>CMANE SELECT
  • NM_138712.5:c.851A>C
  • NP_001341595.2:p.Gln284Pro
  • NP_001341596.2:p.Gln284Pro
  • NP_001341598.1:p.Gln75Pro
  • NP_001361192.2:p.Gln284Pro
  • NP_001361193.2:p.Gln284Pro
  • NP_005028.5:p.Gln284Pro
  • NP_056953.2:p.Gln314Pro
  • NP_619725.3:p.Gln284Pro
  • NP_619726.3:p.Gln284Pro
  • NC_000003.11:g.12458324A>C
Protein change:
Q284P; GLN286PRO
Links:
OMIM: 601487.0004; dbSNP: rs121909242
NCBI 1000 Genomes Browser:
rs121909242
Molecular consequence:
  • NM_001330615.4:c.729+10744A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374261.3:c.729+10744A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374262.3:c.729+10744A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374265.1:c.819+10744A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001374266.1:c.653+10826A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354666.3:c.851A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354667.3:c.851A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354669.2:c.224A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374263.2:c.851A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374264.2:c.851A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005037.7:c.851A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015869.5:c.941A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138711.6:c.851A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138712.5:c.851A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Carcinoma of colon (CRC)
Synonyms:
Colonic carcinoma; Colon carcinoma
Identifiers:
MONDO: MONDO:0002032; MedGen: C0699790

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028817OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 1999) 		somaticliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Loss-of-function mutations in PPAR gamma associated with human colon cancer.

Sarraf P, Mueller E, Smith WM, Wright HM, Kum JB, Aaltonen LA, de la Chapelle A, Spiegelman BM, Eng C.

Mol Cell. 1999 Jun;3(6):799-804.

PubMed [citation]
PMID:
10394368

Details of each submission

From OMIM, SCV000028817.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a sporadic colon cancer (114500) tumor, Sarraf et al. (1999) identified a somatic 857A-G transition in the PPARG gene, resulting in a gln286-to-pro (Q286P) substitution.

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

Last Updated: Apr 23, 2022