NM_020631.5(PLEKHG5):c.655G>A (p.Glu219Lys) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 20, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000489343.1

Allele description [Variation Report for NM_020631.5(PLEKHG5):c.655G>A (p.Glu219Lys)]

NM_020631.5(PLEKHG5):c.655G>A (p.Glu219Lys)

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.655G>A (p.Glu219Lys)
HGVS:
  • NC_000001.11:g.6473391C>T
  • NG_007978.1:g.51619G>A
  • NM_001042663.2:c.823G>A
  • NM_001042664.1:c.655G>A
  • NM_001042665.1:c.655G>A
  • NM_001265592.1:c.892G>A
  • NM_001265593.1:c.862G>A
  • NM_001265594.2:c.655G>A
  • NM_020631.5:c.655G>A
  • NM_198681.3:c.886G>A
  • NP_001036128.1:p.Glu275Lys
  • NP_001036129.1:p.Glu219Lys
  • NP_001036130.1:p.Glu219Lys
  • NP_001252521.1:p.Glu298Lys
  • NP_001252522.1:p.Glu288Lys
  • NP_001252523.1:p.Glu219Lys
  • NP_065682.2:p.Glu219Lys
  • NP_941374.2:p.Glu296Lys
  • LRG_262:g.51619G>A
  • NC_000001.10:g.6533451C>T
  • NM_020631.4:c.655G>A
Protein change:
E219K
Links:
dbSNP: rs774845320
NCBI 1000 Genomes Browser:
rs774845320
Molecular consequence:
  • NM_001042663.2:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042664.1:c.655G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042665.1:c.655G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265592.1:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265593.1:c.862G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265594.2:c.655G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020631.5:c.655G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198681.3:c.886G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000576755GeneDxcriteria provided, single submitter
Uncertain significance
(Apr 20, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000576755.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The E219K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E219K variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position where amino acids with similar properties to Glutamic acid are tolerated across species. However, this variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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