NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del) AND Distal spinal muscular atrophy

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000320159.2

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]

Condition(s)

Name:
Distal spinal muscular atrophy
Identifiers:
MONDO: MONDO:0018894; MedGen: C0393541

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000358741Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000358741.2

#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: Oct 6, 2021

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