NM_020631.6(PLEKHG5):c.1705G>A (p.Asp569Asn) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 19, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000438420.2

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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000514180GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 19, 2020)
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, SCV000514180.4

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

Description

Reported previously as a variant of uncertain significance in an individual with peripheral neuropathy; however, additional information was not provided (Antoniadi et al., 2015); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26392352)

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

Last Updated: Nov 10, 2021

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