NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=) AND not provided

Clinical significance:Likely benign (Last evaluated: Mar 12, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV001550038.4

Allele description [Variation Report for NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=)]

NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=)

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.1149G>C (p.Leu383=)
HGVS:
  • NC_000005.10:g.150132073C>G
  • NG_023367.1:g.28787G>C
  • NM_001355016.2:c.957G>C
  • NM_001355017.2:c.666G>C
  • NM_002609.4:c.1149G>CMANE SELECT
  • NP_001341945.1:p.Leu319=
  • NP_001341946.1:p.Leu222=
  • NP_002600.1:p.Leu383=
  • NC_000005.9:g.149511636C>G
  • NM_002609.3:c.1149G>C
Links:
dbSNP: rs2228439
NCBI 1000 Genomes Browser:
rs2228439
Molecular consequence:
  • NM_001355016.2:c.957G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001355017.2:c.666G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_002609.4:c.1149G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001770306GeneDxcriteria provided, single submitter
Likely benign
(Mar 12, 2021)
germlineclinical testing

Citation Link,

SCV001808338Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensusno assertion criteria providedLikely benigngermlineclinical testing

SCV001970832Clinical 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 GeneDx, SCV001770306.1

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

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001808338.1

#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, SCV001970832.1

#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 6, 2021

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