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NM_002608.4(PDGFB):c.356T>C (p.Leu119Pro) AND Basal ganglia calcification, idiopathic, 5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 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:
RCV000066214.24

Allele description [Variation Report for NM_002608.4(PDGFB):c.356T>C (p.Leu119Pro)]

NM_002608.4(PDGFB):c.356T>C (p.Leu119Pro)

Gene:
PDGFB:platelet derived growth factor subunit B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.1
Genomic location:
Preferred name:
NM_002608.4(PDGFB):c.356T>C (p.Leu119Pro)
HGVS:
  • NC_000022.11:g.39231722A>G
  • NG_012111.1:g.18231T>C
  • NM_002608.4:c.356T>CMANE SELECT
  • NM_033016.3:c.311T>C
  • NP_002599.1:p.Leu119Pro
  • NP_148937.1:p.Leu104Pro
  • NC_000022.10:g.39627727A>G
  • P01127:p.Leu119Pro
Protein change:
L104P; LEU119PRO
Links:
UniProtKB: P01127#VAR_070871; OMIM: 190040.0004; dbSNP: rs397515632
NCBI 1000 Genomes Browser:
rs397515632
Molecular consequence:
  • NM_002608.4:c.356T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033016.3:c.311T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Basal ganglia calcification, idiopathic, 5
Identifiers:
MONDO: MONDO:0014204; MedGen: C3809645; Orphanet: 1980; OMIM: 615483

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000105921OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 2013) 		germlineliterature only

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

Keller, A. Personal Communication. 2013. Zurich, Switzerland

Help

Summary from all submissions

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

Citations

PubMed

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.

Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobričić V, Carracedo A, Petrović I, Miyasaki JM, Abakumova I, Mäe MA, et al.

Nat Genet. 2013 Sep;45(9):1077-82. doi: 10.1038/ng.2723. Epub 2013 Aug 4.

PubMed [citation]
PMID:
23913003

Details of each submission

From OMIM, SCV000105921.2

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

Description

In 3 members of a Brazilian family (family B) with IBGC5 (615483), Keller et al. (2013) identified a heterozygous c.356T-C transition in exon 4 of the PDGFB gene, resulting in a leu119-to-pro (L119P) substitution in a predicted receptor-binding loop. The mutation was not present in the Exome Variant Server or dbSNP databases, in 173 in-house controls, or in 378 ancestry-matched controls. No functional studies were performed on the variant, but the mutation was predicted to lead to a loss of protein function. (In the article, the nucleotide change was cited as c.356T-C and c.356C-T; Keller (2013) confirmed that the correct change is c.356T-C.)

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

Last Updated: Apr 23, 2022