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NM_002609.4(PDGFRB):c.1613T>A (p.Ile538Asn) AND Infantile myofibromatosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 10, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001249590.2

Allele description [Variation Report for NM_002609.4(PDGFRB):c.1613T>A (p.Ile538Asn)]

NM_002609.4(PDGFRB):c.1613T>A (p.Ile538Asn)

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.1613T>A (p.Ile538Asn)
HGVS:
  • NC_000005.10:g.150126581A>T
  • NG_023367.1:g.34279T>A
  • NM_001355016.2:c.1421T>A
  • NM_001355017.2:c.1130T>A
  • NM_002609.4:c.1613T>AMANE SELECT
  • NP_001341945.1:p.Ile474Asn
  • NP_001341946.1:p.Ile377Asn
  • NP_002600.1:p.Ile538Asn
  • NC_000005.9:g.149506144A>T
  • NM_002609.3:c.1613T>A
  • p.Ile538Asn
Protein change:
I377N
Links:
dbSNP: rs1760301005
NCBI 1000 Genomes Browser:
rs1760301005
Molecular consequence:
  • NM_001355016.2:c.1421T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001355017.2:c.1130T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002609.4:c.1613T>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
protein gain of function [Variation Ontology: 0040]

Condition(s)

Name:
Infantile myofibromatosis (IMF)
Synonyms:
Congenital generalized fibromatosis
Identifiers:
MONDO: MONDO:0016824; MedGen: C0432284; OMIM: PS228550

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001423559Demoulin lab, University of Louvain
criteria provided, single submitter

(Dachy G et al. (JAMA Dermatol 2019))		Pathogenic
(Aug 10, 2018) 		somaticresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes1not providednot providednot providednot providedresearch

Citations

PubMed

Association of PDGFRB Mutations With Pediatric Myofibroma and Myofibromatosis.

Dachy G, de Krijger RR, Fraitag S, Théate I, Brichard B, Hoffman SB, Libbrecht L, Arts FA, Brouillard P, Vikkula M, Limaye N, Demoulin JB.

JAMA Dermatol. 2019 Aug 1;155(8):946-950. doi: 10.1001/jamadermatol.2019.0114.

PubMed [citation]
PMID:
31017643
PMCID:
PMC6487901

Details of each submission

From Demoulin lab, University of Louvain, SCV001423559.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)

Description

The mutation strongly activates PDGFRB signaling in in vitro assays (gain of function).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 7, 2024