NM_020631.6(PLEKHG5):c.1705G>A (p.Asp569Asn) AND none provided

Clinical significance:Uncertain significance (Last evaluated: Apr 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001286509.2

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.1705G>A (p.Asp569Asn)]

NM_020631.6(PLEKHG5):c.1705G>A (p.Asp569Asn)

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_020631.6(PLEKHG5):c.1705G>A (p.Asp569Asn)
HGVS:
  • NC_000001.11:g.6470331C>T
  • NG_007978.1:g.54679G>A
  • NG_029910.1:g.865G>A
  • NM_001042663.3:c.1816G>A
  • NM_001042664.1:c.1705G>A
  • NM_001042665.1:c.1705G>A
  • NM_001265592.2:c.1816G>A
  • NM_001265593.1:c.1912G>A
  • NM_001265594.2:c.1705G>A
  • NM_020631.6:c.1705G>AMANE SELECT
  • NM_198681.4:c.1705G>A
  • NP_001036128.2:p.Asp606Asn
  • NP_001036129.1:p.Asp569Asn
  • NP_001036130.1:p.Asp569Asn
  • NP_001252521.2:p.Asp606Asn
  • NP_001252522.1:p.Asp638Asn
  • NP_001252523.1:p.Asp569Asn
  • NP_065682.2:p.Asp569Asn
  • NP_941374.3:p.Asp569Asn
  • LRG_262:g.54679G>A
  • NC_000001.10:g.6530391C>T
  • NM_020631.4:c.1705G>A
Protein change:
D569N
Links:
dbSNP: rs200641225
NCBI 1000 Genomes Browser:
rs200641225
Molecular consequence:
  • NM_001042663.3:c.1816G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042664.1:c.1705G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042665.1:c.1705G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265592.2:c.1816G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265593.1:c.1912G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265594.2:c.1705G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020631.6:c.1705G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198681.4:c.1705G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001473095ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Apr 3, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001473095.1

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

Description

The PLEKHG5 c.1705G>A; p.Asp569Asn variant (rs200641225) is reported in the literature in an individual affected with inherited peripheral neuopathy (Antoniadi 2015). This variant is reported in ClinVar (Variation ID: 378377), and is found in the general population with an overall allele frequency of 0.030% (85/282250 alleles) in the Genome Aggregation Database. The aspartic acid at codon 569 is highly conserved, and computational analyses (SIFT: tolerated, PolyPhen-2: possibly damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Asp569Asn variant is uncertain at this time. References: Antoniadi T et al. Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. BMC Med Genet. 2015 Sep 21;16:84.

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

Last Updated: Nov 27, 2021

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