NM_006206.5(PDGFRA):c.1682T>A (p.Val561Asp) AND Gastrointestinal stromal tumor, familial

delete

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 2007
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:: RCV000014505.26

Allele description

NM_006206.5(PDGFRA):c.1682T>A (p.Val561Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q12

Genomic location:

Preferred name:

NM_006206.5(PDGFRA):c.1682T>A (p.Val561Asp)

HGVS:

NC_000004.12:g.54274869T>A
NG_009250.1:g.50773T>A
NM_006206.5:c.1682T>A
NP_006197.1:p.Val561Asp
LRG_309t1:c.1682T>A
LRG_309:g.50773T>A
LRG_309p1:p.Val561Asp
NC_000004.11:g.55141036T>A
NM_006206.4:c.1682T>A
P16234:p.Val561Asp

Protein change:

V561D; VAL561ASP

Links:

UniProtKB: P16234#VAR_066462; OMIM: 173490.0004; dbSNP: rs121908586

NCBI 1000 Genomes Browser:

rs121908586

Molecular consequence:

NM_006206.5:c.1682T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Gastrointestinal stromal tumor, familial
Identifiers:: MedGen: C2674636

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034756	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2007)	unknown	literature only	PubMed (2) [See all records that cite these PMIDs] 12522257, 17566086

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034756

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2007)

unknown

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	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

Multiple gastrointestinal stromal and other tumors caused by platelet-derived growth factor receptor alpha gene mutations: a case associated with a germline V561D defect.

Pasini B, Matyakhina L, Bei T, Muchow M, Boikos S, Ferrando B, Carney JA, Stratakis CA.

J Clin Endocrinol Metab. 2007 Sep;92(9):3728-32. Epub 2007 Jun 12.

PubMed [citation]

PMID:: 17566086

Details of each submission

From OMIM, SCV000034756.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In the tumor but not genomic DNA of a patient with gastrointestinal stromal tumor (606764), Heinrich et al. (2003) identified a somatic mutation in exon 12 of the PDGFRA gene, resulting in a val561-to-asp substitution (V561D) in the juxtamembrane domain.

Pasini et al. (2007) identified a heterozygous germline T-to-A transversion in the PDGFRA resulting in a V561D substitution in a woman with GISTs and other mesenchymal tumors. She developed intestinal obstruction at age 32 years and was found to have multiple mesenchymal fibroid intestinal tumors. Tumor tissue showed multiple secondary genetic changes, including loss of heterozygosity of several chromosomal regions such as 14q. Of note, the patient had a history of a duodenal lipoma, which had not previously been reported in patients with GISTs.

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

Last Updated: Jun 17, 2019

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