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NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe) AND Myeloproliferative disorder, chronic, with eosinophilia

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 7, 2023
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:
RCV003316402.2

Allele description [Variation Report for NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe)]

NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe)

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.85A>T (p.Ile29Phe)
HGVS:
  • NC_000005.10:g.150135834T>A
  • NG_023367.1:g.25026A>T
  • NM_001355016.2:c.-108A>T
  • NM_001355017.2:c.-433A>T
  • NM_002609.4:c.85A>TMANE SELECT
  • NP_002600.1:p.Ile29Phe
  • NC_000005.9:g.149515397T>A
  • NM_002609.3:c.85A>T
  • P09619:p.Ile29Phe
Protein change:
I29F
Links:
UniProtKB: P09619#VAR_034377; dbSNP: rs17110944
NCBI 1000 Genomes Browser:
rs17110944
Molecular consequence:
  • NM_001355016.2:c.-108A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001355017.2:c.-433A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_002609.4:c.85A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Myeloproliferative disorder, chronic, with eosinophilia
Synonyms:
EOSINOPHILS, MALIGNANT PROLIFERATION OF; Malignant eosinophil proliferation
Identifiers:
MONDO: MONDO:0007546; MedGen: C1851585; OMIM: 131440; Human Phenotype Ontology: HP:0006782

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004016546KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benign
(Jul 7, 2023)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004016546.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024