NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys) AND Infantile myofibromatosis 1

Clinical significance:Likely pathogenic (Last evaluated: Feb 12, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000203292.1

Allele description [Variation Report for NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys)]

NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys)

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.1998C>A (p.Asn666Lys)
HGVS:
  • NC_000005.10:g.150124275G>T
  • NG_023367.1:g.36585C>A
  • NM_001355016.2:c.1806C>A
  • NM_001355017.2:c.1515C>A
  • NM_002609.4:c.1998C>AMANE SELECT
  • NP_001341945.1:p.Asn602Lys
  • NP_001341946.1:p.Asn505Lys
  • NP_002600.1:p.Asn666Lys
  • NC_000005.9:g.149503838G>T
  • NM_002609.3:c.1998C>A
Protein change:
N505K
Links:
dbSNP: rs864309711
NCBI 1000 Genomes Browser:
rs864309711
Molecular consequence:
  • NM_001355016.2:c.1806C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001355017.2:c.1515C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002609.4:c.1998C>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
protein gain of function [Variation Ontology: 0040]

Condition(s)

Name:
Infantile myofibromatosis 1 (IMF1)
Identifiers:
MONDO: MONDO:0009227; MedGen: C4551572; Orphanet: 2591; OMIM: 228550

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000256760Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicinecriteria provided, single submitter
Likely pathogenic
(Feb 12, 2013)
somaticresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes11not providednot providednot providedresearch

Citations

PubMed

A recurrent PDGFRB mutation causes familial infantile myofibromatosis.

Cheung YH, Gayden T, Campeau PM, LeDuc CA, Russo D, Nguyen VH, Guo J, Qi M, Guan Y, Albrecht S, Moroz B, Eldin KW, Lu JT, Schwartzentruber J, Malkin D, Berghuis AM, Emil S, Gibbs RA, Burk DL, Vanstone M, Lee BH, Orchard D, et al.

Am J Hum Genet. 2013 Jun 6;92(6):996-1000. doi: 10.1016/j.ajhg.2013.04.026. Epub 2013 May 23.

PubMed [citation]
PMID:
23731537
PMCID:
PMC3675240

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000256760.1

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

Description

This mutation has been found in two myofibromas from one of the affected familial cases.

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

Last Updated: Apr 17, 2020

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