NM_002609.4(PDGFRB):c.2959C>T (p.Arg987Trp) AND Basal ganglia calcification, idiopathic, 4

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 8, 2013
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:: RCV000032789.30

Allele description [Variation Report for NM_002609.4(PDGFRB):c.2959C>T (p.Arg987Trp)]

NM_002609.4(PDGFRB):c.2959C>T (p.Arg987Trp)

Gene:

PDGFRB:platelet derived growth factor receptor beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q32

Genomic location:

Preferred name:

NM_002609.4(PDGFRB):c.2959C>T (p.Arg987Trp)

HGVS:

NC_000005.10:g.150117796G>A
NG_012303.2:g.577C>T
NG_023367.1:g.43064C>T
NM_001355016.2:c.2767C>T
NM_001355017.2:c.2476C>T
NM_002609.4:c.2959C>TMANE SELECT
NP_001341945.1:p.Arg923Trp
NP_001341946.1:p.Arg826Trp
NP_002600.1:p.Arg987Trp
NC_000005.9:g.149497359G>A
NG_012303.1:g.577C>T
NM_002609.3:c.2959C>T
P09619:p.Arg987Trp

Protein change:

R826W; ARG987TRP

Links:

UniProtKB: P09619#VAR_069321; OMIM: 173410.0002; dbSNP: rs397509382

NCBI 1000 Genomes Browser:

rs397509382

Molecular consequence:

NM_001355016.2:c.2767C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001355017.2:c.2476C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_002609.4:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Basal ganglia calcification, idiopathic, 4 (IBGC4)
Synonyms:: Familial Idiopathic Basal Ganglia Calcification 4
Identifiers:: MONDO: MONDO:0014004; MedGen: C3554321; Orphanet: 1980; OMIM: 615007

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000056557	OMIM	no assertion criteria provided	Pathogenic (Jan 8, 2013)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000086886	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (2) [See all records that cite these PMIDs] 23255827, 20301594

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000056557

OMIM

no assertion criteria provided

Pathogenic
(Jan 8, 2013)

germline

literature only

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

SCV000086886

GeneReviews

no classification provided

not provided

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.

Nicolas G, Pottier C, Maltête D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Maréchal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frébourg T, Hannequin D, Campion D.

Neurology. 2013 Jan 8;80(2):181-7. doi: 10.1212/WNL.0b013e31827ccf34. Epub 2012 Dec 19.

PubMed [citation]

PMID:: 23255827

Primary Familial Brain Calcification.

Ramos EM, Oliveira J, Sobrido MJ, Coppola G.

2004 Apr 18 [updated 2017 Aug 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301594

Details of each submission

From OMIM, SCV000056557.2

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

Description

In a 66-year-old woman with sporadic occurrence of IBGC4 (615007), Nicolas et al. (2013) identified a heterozygous 2959C-T transition in the PDGFRB gene, resulting in an arg987-to-trp (R987W) substitution at a highly conserved residue. The mutation was not found in multiple exome databases. No functional studies were performed. The patient presented with a mild cognitive dysexecutive syndrome and bradykinesia and pyramidal signs.

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

From GeneReviews, SCV000086886.2

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

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

Last Updated: Oct 8, 2024

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