NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_Glu723del) AND not specified

Clinical significance:Benign (Last evaluated: Mar 31, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000175470.1

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_Glu723del)]

NM_020631.6(PLEKHG5):c.2145GGA[6] (p.Glu722_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[6] (p.Glu722_Glu723del)
HGVS:
  • NC_000001.10:g.6529183_6529188del
  • NC_000001.11:g.6469125CTC[6]
  • NG_007978.1:g.55864GGA[6]
  • NG_029910.1:g.2050GGA[6]
  • NM_001042663.3:c.2256GGA[6]
  • NM_001042664.1:c.2145GGA[6]
  • NM_001042665.1:c.2145GGA[6]
  • NM_001265592.2:c.2256GGA[6]
  • NM_001265593.1:c.2352GGA[6]
  • NM_001265594.2:c.2145GGA[6]
  • NM_020631.6:c.2145GGA[6]MANE SELECT
  • NM_198681.4:c.2145GGA[6]
  • NP_001036128.2:p.Glu759_Glu760del
  • NP_001036129.1:p.Glu722_Glu723del
  • NP_001036130.1:p.Glu722_Glu723del
  • NP_001252521.2:p.Glu759_Glu760del
  • NP_001252522.1:p.Glu791_Glu792del
  • NP_001252523.1:p.Glu722_Glu723del
  • NP_065682.2:p.Glu722_Glu723del
  • NP_941374.3:p.Glu722_Glu723del
  • LRG_262:g.55864GGA[6]
  • NC_000001.10:g.6529183_6529188del
  • NC_000001.10:g.6529185CTC[6]
  • NC_000001.10:g.6529203_6529208delCTCCTC
  • NM_020631.4:c.2163_2168del
  • NM_020631.4:c.2163_2168delGGAGGA
Links:
dbSNP: rs113541584
NCBI 1000 Genomes Browser:
rs113541584
Molecular consequence:
  • NM_001042663.3:c.2256GGA[6] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042664.1:c.2145GGA[6] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042665.1:c.2145GGA[6] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001265592.2:c.2256GGA[6] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001265593.1:c.2352GGA[6] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001265594.2:c.2145GGA[6] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_020631.6:c.2145GGA[6] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_198681.4:c.2145GGA[6] - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
6

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
SCV000226952EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Mar 31, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown6not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000226952.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided6not providednot providednot provided

Last Updated: Sep 23, 2021

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