NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile) AND not provided

Clinical significance:Likely benign

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001579595.2

Allele description [Variation Report for NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile)]

NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile)

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.263C>T (p.Thr88Ile)
HGVS:
  • NC_000005.10:g.150135656G>A
  • NG_023367.1:g.25204C>T
  • NM_001355016.2:c.71C>T
  • NM_001355017.2:c.-255C>T
  • NM_002609.4:c.263C>TMANE SELECT
  • NP_001341945.1:p.Thr24Ile
  • NP_002600.1:p.Thr88Ile
  • NC_000005.9:g.149515219G>A
  • NM_002609.3:c.263C>T
Protein change:
T24I
Links:
dbSNP: rs147303614
NCBI 1000 Genomes Browser:
rs147303614
Molecular consequence:
  • NM_001355017.2:c.-255C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001355016.2:c.71C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002609.4:c.263C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001807842Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

SCV001967378Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001807842.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001967378.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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