NM_020631.5(PLEKHG5):c.43+14_43+20del AND none provided

Clinical significance:Likely benign (Last evaluated: Aug 30, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001000628.2

Allele description [Variation Report for NM_020631.5(PLEKHG5):c.43+14_43+20del]

NM_020631.5(PLEKHG5):c.43+14_43+20del

Gene:
PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.31
Genomic location:
Preferred name:
NM_020631.5(PLEKHG5):c.43+14_43+20del
HGVS:
  • NC_000001.11:g.6477511_6477517del
  • NG_007978.1:g.47495_47501del
  • NM_001042663.2:c.211+14_211+20del
  • NM_001042664.1:c.43+14_43+20del
  • NM_001042665.1:c.43+14_43+20del
  • NM_001265592.1:c.280+14_280+20del
  • NM_001265593.1:c.250+14_250+20del
  • NM_001265594.2:c.43+14_43+20del
  • NM_020631.5:c.43+14_43+20del
  • NM_198681.3:c.274+14_274+20del
  • LRG_262:g.47495_47501del
  • NC_000001.10:g.6537571_6537577del
  • NC_000001.10:g.6537571_6537577delGCTCCCG
  • NM_020631.4:c.43+14_43+20delGGAGCCG
  • NM_020631.4:c.43+14_43+20delGGAGCCG
Links:
dbSNP: rs527883968
NCBI 1000 Genomes Browser:
rs527883968
Molecular consequence:
  • NM_001042663.2:c.211+14_211+20del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042664.1:c.43+14_43+20del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042665.1:c.43+14_43+20del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001265592.1:c.280+14_280+20del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001265593.1:c.250+14_250+20del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001265594.2:c.43+14_43+20del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020631.5:c.43+14_43+20del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198681.3:c.274+14_274+20del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001157638ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Aug 30, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001157638.2

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

Last Updated: Sep 29, 2021

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