NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del) AND not specified

Clinical significance:Benign (Last evaluated: Nov 23, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000175472.5

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del)]

NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del)

Gene:
PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1p36.31
Genomic location:
Preferred name:
NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del)
HGVS:
  • NC_000001.11:g.6469125CTC[7]
  • NG_007978.1:g.55864GGA[7]
  • NG_029910.1:g.2050GGA[7]
  • NM_001042663.3:c.2256GGA[7]
  • NM_001042664.1:c.2145GGA[7]
  • NM_001042665.1:c.2145GGA[7]
  • NM_001265592.2:c.2256GGA[7]
  • NM_001265593.1:c.2352GGA[7]
  • NM_001265594.2:c.2145GGA[7]
  • NM_020631.6:c.2145GGA[7]MANE SELECT
  • NM_198681.4:c.2145GGA[7]
  • NP_001036128.2:p.Glu760del
  • NP_001036129.1:p.Glu723del
  • NP_001036130.1:p.Glu723del
  • NP_001252521.2:p.Glu760del
  • NP_001252522.1:p.Glu792del
  • NP_001252523.1:p.Glu723del
  • NP_065682.2:p.Glu723del
  • NP_941374.3:p.Glu723del
  • LRG_262:g.55864GGA[7]
  • NC_000001.10:g.6529183_6529185del
  • NC_000001.10:g.6529185CTC[7]
  • NM_020631.4:c.2166_2168del
  • NM_020631.4:c.2166_2168delGGA
Protein change:
E723del
Links:
dbSNP: rs113541584
NCBI 1000 Genomes Browser:
rs113541584
Molecular consequence:
  • NM_001042663.3:c.2256GGA[7] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042664.1:c.2145GGA[7] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042665.1:c.2145GGA[7] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001265592.2:c.2256GGA[7] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001265593.1:c.2352GGA[7] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001265594.2:c.2145GGA[7] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_020631.6:c.2145GGA[7] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_198681.4:c.2145GGA[7] - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
27

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000226954EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Nov 23, 2015)
germlineclinical testing

Citation Link,

SCV001922317Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

SCV001927172Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown27not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000226954.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided27not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided27not providednot providednot provided

From Clinical Genetics,Academic Medical Center - VKGL Data-share Consensus, SCV001922317.1

#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, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001927172.1

#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: Oct 6, 2021

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