NM_020631.6(PLEKHG5):c.997C>T (p.Arg333Trp) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Nov 17, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000413441.1

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.997C>T (p.Arg333Trp)]

NM_020631.6(PLEKHG5):c.997C>T (p.Arg333Trp)

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.997C>T (p.Arg333Trp)
HGVS:
  • NC_000001.11:g.6472610G>A
  • NG_007978.1:g.52400C>T
  • NM_001042663.3:c.1108C>T
  • NM_001042664.1:c.997C>T
  • NM_001042665.1:c.997C>T
  • NM_001265592.2:c.1108C>T
  • NM_001265593.1:c.1204C>T
  • NM_001265594.2:c.997C>T
  • NM_020631.6:c.997C>TMANE SELECT
  • NM_198681.4:c.997C>T
  • NP_001036128.2:p.Arg370Trp
  • NP_001036129.1:p.Arg333Trp
  • NP_001036130.1:p.Arg333Trp
  • NP_001252521.2:p.Arg370Trp
  • NP_001252522.1:p.Arg402Trp
  • NP_001252523.1:p.Arg333Trp
  • NP_065682.2:p.Arg333Trp
  • NP_941374.3:p.Arg333Trp
  • LRG_262:g.52400C>T
  • NC_000001.10:g.6532670G>A
  • NM_020631.4:c.997C>T
Protein change:
R333W
Links:
dbSNP: rs148232621
NCBI 1000 Genomes Browser:
rs148232621
Molecular consequence:
  • NM_001042663.3:c.1108C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042664.1:c.997C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042665.1:c.997C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265592.2:c.1108C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265593.1:c.1204C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265594.2:c.997C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020631.6:c.997C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198681.4:c.997C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000492013GeneDxcriteria provided, single submitter
Uncertain significance
(Nov 17, 2016)
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, SCV000492013.1

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

Description

A variant of uncertain significance has been identified in the PLEKHG5 gene. The R333W variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R333W variant is observed in 10/54458 (0.0001%) alleles from individuals of European (Non-Finnish) background, (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R333W 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. Additionally, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Nov 27, 2021

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