NM_020631.5(PLEKHG5):c.2249+4C>T AND Distal spinal muscular atrophy

Clinical significance:Uncertain significance (Last evaluated: Apr 26, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000268467.2

Allele description [Variation Report for NM_020631.5(PLEKHG5):c.2249+4C>T]

NM_020631.5(PLEKHG5):c.2249+4C>T

Gene:
PLEKHG5:pleckstrin homology and RhoGEF domain containing G5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.31
Genomic location:
Preferred name:
NM_020631.5(PLEKHG5):c.2249+4C>T
HGVS:
  • NC_000001.11:g.6469038G>A
  • NG_007978.1:g.55972C>T
  • NG_029910.1:g.2158C>T
  • NM_001042663.2:c.2417+4C>T
  • NM_001042664.1:c.2249+4C>T
  • NM_001042665.1:c.2249+4C>T
  • NM_001265592.1:c.2486+4C>T
  • NM_001265593.1:c.2456+4C>T
  • NM_001265594.2:c.2249+4C>T
  • NM_020631.5:c.2249+4C>T
  • NM_198681.3:c.2480+4C>T
  • LRG_262:g.55972C>T
  • NC_000001.10:g.6529098G>A
  • NM_020631.4:c.2249+4C>T
Links:
dbSNP: rs751575330
NCBI 1000 Genomes Browser:
rs751575330
Molecular consequence:
  • NM_001042663.2:c.2417+4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042664.1:c.2249+4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042665.1:c.2249+4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001265592.1:c.2486+4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001265593.1:c.2456+4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001265594.2:c.2249+4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020631.5:c.2249+4C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198681.3:c.2480+4C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000787821Institute of Human Genetics,Cologne Universityno assertion criteria providedUncertain significance
(Apr 26, 2018)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics,Cologne University, SCV000787821.1

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

Last Updated: Jun 14, 2021

Support Center