NM_006206.6(PDGFRA):c.1681_1682insAGAGGG (p.Arg560_Val561insGluArg) AND Gastrointestinal stromal tumor

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 31, 2003
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:: RCV000014506.4

Allele description

NM_006206.6(PDGFRA):c.1681_1682insAGAGGG (p.Arg560_Val561insGluArg)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

4q12

Genomic location:

Preferred name:

NM_006206.6(PDGFRA):c.1681_1682insAGAGGG (p.Arg560_Val561insGluArg)

HGVS:

NC_000004.12:g.54274868_54274869insAGAGGG
NG_009250.1:g.50772_50773insAGAGGG
NM_001347827.2:c.1681_1682insAGAGGG
NM_001347828.2:c.1756_1757insAGAGGG
NM_001347829.2:c.1681_1682insAGAGGG
NM_001347830.2:c.1720_1721insAGAGGG
NM_006206.6:c.1681_1682insAGAGGGMANE SELECT
NP_001334756.1:p.Arg560_Val561insGluArg
NP_001334757.1:p.Arg585_Val586insGluArg
NP_001334758.1:p.Arg560_Val561insGluArg
NP_001334759.1:p.Arg573_Val574insGluArg
NP_006197.1:p.Arg560_Val561insGluArg
LRG_309t1:c.1681_1682insAGAGGG
LRG_309:g.50772_50773insAGAGGG
NC_000004.11:g.55141035_55141036insAGAGGG
NM_006206.4:c.1681_1682insAGAGGG

Note:

NCBI staff reviewed the sequence information reported in PubMed 12522257 online supplement SFig. 6 to determine the location of this allele on the current reference sequence.

Nucleotide change:

2-CODON INS, 561ER

Links:

OMIM: 173490.0005; dbSNP: rs587776794

NCBI 1000 Genomes Browser:

rs587776794

Molecular consequence:

NM_001347827.2:c.1681_1682insAGAGGG - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001347828.2:c.1756_1757insAGAGGG - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001347829.2:c.1681_1682insAGAGGG - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001347830.2:c.1720_1721insAGAGGG - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_006206.6:c.1681_1682insAGAGGG - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Gastrointestinal stromal tumor
Synonyms:: Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic; Gastrointestinal stroma tumor
Identifiers:: MONDO: MONDO:0011719; 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
SCV000034757	OMIM	no assertion criteria provided	Pathogenic (Jan 31, 2003)	somatic	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034757

OMIM

no assertion criteria provided

Pathogenic
(Jan 31, 2003)

somatic

literature only

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	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

Details of each submission

From OMIM, SCV000034757.2

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

Description

In a tumor but not genomic DNA of a patient with gastrointestinal stromal tumor (see 175510), Heinrich et al. (2003) identified the insertion of 2 amino acids at codons 561 and 562 in exon 12 of the PDGFRA gene, which encodes the juxtamembrane domain.

#	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

Last Updated: Aug 13, 2023

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