NM_006206.5(PDGFRA):c.2526_2537delCATCATGCATGA (p.Ile843_Asp846del) AND Gastrointestinal stroma tumor

This record was updated by the submitter. Please see the current version.

Germline classification:: Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:: Jul 14, 2015
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:: RCV000014502.4

Allele description

NM_006206.5(PDGFRA):c.2526_2537delCATCATGCATGA (p.Ile843_Asp846del)

Gene:

PDGFRA:platelet derived growth factor receptor alpha [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4q12

Genomic location:

Preferred name:

NM_006206.5(PDGFRA):c.2526_2537delCATCATGCATGA (p.Ile843_Asp846del)

Other names:

Del DIMH842-845

HGVS:

NC_000004.12:g.54285927_54285938delCATCATGCATGA
NG_009250.1:g.61831_61842delCATCATGCATGA
NM_006206.5:c.2526_2537delCATCATGCATGA
NP_006197.1:p.Ile843_Asp846del
LRG_309t1:c.2526_2537delCATCATGCATGA
LRG_309:g.61831_61842delCATCATGCATGA
LRG_309p1:p.Ile843_Asp846del
NC_000004.11:g.55152094_55152105delCATCATGCATGA
NM_006206.4:c.2526_2537del
NM_006206.4:c.2526_2537delCATCATGCATGA

Nucleotide change:

4-CODON DEL, 842DIMH

Links:

OMIM: 173490.0002; dbSNP: rs587776792

NCBI 1000 Genomes Browser:

rs587776792

Molecular consequence:

NM_006206.4:c.2526_2537delCATCATGCATGA - inframe_variant - [Sequence Ontology: SO:0001650]

Condition(s)

Name:: Gastrointestinal stroma tumor (GIST)
Synonyms:: Gastrointestinal stromal tumor; Gastrointestinal stromal tumor, somatic; Gastrointestinal stromal tumors
Identifiers:: MeSH: D046152; MedGen: C0238198; Orphanet: 44890; OMIM: 606764; Human Phenotype Ontology: HP:0100723

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034753	OMIM	no assertion criteria provided	Pathogenic (Jan 31, 2003)	somatic	literature only	PubMed (1) [See all records that cite this PMID]
SCV000505536	Database of Curated Mutations (DoCM)	no assertion criteria provided	Likely pathogenic (Jul 14, 2015)	somatic	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034753

OMIM

no assertion criteria provided

Pathogenic
(Jan 31, 2003)

somatic

literature only

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

SCV000505536

Database of Curated Mutations (DoCM)

no assertion criteria provided

Likely pathogenic
(Jul 14, 2015)

somatic

literature only

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	literature only
not provided	somatic	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

PDGFRA activating mutations in gastrointestinal stromal tumors.

Heinrich MC, Corless CL, Duensing A, McGreevey L, Chen CJ, Joseph N, Singer S, Griffith DJ, Haley A, Town A, Demetri GD, Fletcher CD, Fletcher JA.

Science. 2003 Jan 31;299(5607):708-10. Epub 2003 Jan 9.

PubMed [citation]

PMID:: 12522257

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

MacConaill LE, Garcia E, Shivdasani P, Ducar M, Adusumilli R, Breneiser M, Byrne M, Chung L, Conneely J, Crosby L, Garraway LA, Gong X, Hahn WC, Hatton C, Kantoff PW, Kluk M, Kuo F, Jia Y, Joshi R, Longtine J, Manning A, Palescandolo E, et al.

J Mol Diagn. 2014 Nov;16(6):660-72. doi: 10.1016/j.jmoldx.2014.06.004. Epub 2014 Aug 23.

PubMed [citation]

PMID:: 25157968
PMCID:: PMC4210463

Details of each submission

From OMIM, SCV000034753.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In the tumor but not genomic DNA of a patient with gastrointestinal stromal tumor (606764), Heinrich et al. (2003) identified a 4-amino acid deletion in exon 18 of the PDGFRA gene.

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

From Database of Curated Mutations (DoCM), SCV000505536.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

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

Last Updated: Apr 27, 2018

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