NM_001265594.2(PLEKHG5):c.2737+22_2737+24del AND Distal spinal muscular atrophy

Clinical significance:Uncertain significance (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:
RCV000377811.2

Allele description [Variation Report for NM_001265594.2(PLEKHG5):c.2737+22_2737+24del]

NM_001265594.2(PLEKHG5):c.2737+22_2737+24del

Gene:
PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p36.31
Genomic location:
Preferred name:
NM_001265594.2(PLEKHG5):c.2737+22_2737+24del
HGVS:
  • NC_000001.11:g.6468076_6468078del
  • NG_007978.1:g.56933_56935del
  • NG_029910.1:g.3119_3121del
  • NM_001042663.2:c.2927_2929del
  • NM_001042664.1:c.2759_2761del
  • NM_001042665.1:c.2759_2761del
  • NM_001265592.1:c.2996_2998del
  • NM_001265593.1:c.2966_2968del
  • NM_001265594.2:c.2737+22_2737+24del
  • NM_020631.5:c.2759_2761del
  • NM_198681.3:c.2990_2992del
  • NP_001036128.1:p.Pro976del
  • NP_001036129.1:p.Pro920del
  • NP_001036130.1:p.Pro920del
  • NP_001252521.1:p.Pro999del
  • NP_001252522.1:p.Pro989del
  • NP_065682.2:p.Pro920del
  • NP_941374.2:p.Pro997del
  • LRG_262:g.56933_56935del
  • NC_000001.10:g.6528135_6528137del
  • NC_000001.10:g.6528136_6528138del
  • NM_020631.4:c.2759_2761delCTC
Protein change:
P920del
Links:
dbSNP: rs536097668
NCBI 1000 Genomes Browser:
rs536097668
Molecular consequence:
  • NM_001042663.2:c.2927_2929del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042664.1:c.2759_2761del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042665.1:c.2759_2761del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001265592.1:c.2996_2998del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001265593.1:c.2966_2968del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_020631.5:c.2759_2761del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_198681.3:c.2990_2992del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001265594.2:c.2737+22_2737+24del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000358719Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(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, SCV000358719.2

#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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