NM_020631.6(PLEKHG5):c.518G>A (p.Arg173Gln) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Feb 25, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000236863.3

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.518G>A (p.Arg173Gln)]

NM_020631.6(PLEKHG5):c.518G>A (p.Arg173Gln)

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.518G>A (p.Arg173Gln)
HGVS:
  • NC_000001.11:g.6474086C>T
  • NG_007978.1:g.50924G>A
  • NM_001042663.3:c.629G>A
  • NM_001042664.1:c.518G>A
  • NM_001042665.1:c.518G>A
  • NM_001265592.2:c.629G>A
  • NM_001265593.1:c.725G>A
  • NM_001265594.2:c.518G>A
  • NM_020631.6:c.518G>AMANE SELECT
  • NM_198681.4:c.518G>A
  • NP_001036128.2:p.Arg210Gln
  • NP_001036129.1:p.Arg173Gln
  • NP_001036130.1:p.Arg173Gln
  • NP_001252521.2:p.Arg210Gln
  • NP_001252522.1:p.Arg242Gln
  • NP_001252523.1:p.Arg173Gln
  • NP_065682.2:p.Arg173Gln
  • NP_941374.3:p.Arg173Gln
  • LRG_262:g.50924G>A
  • NC_000001.10:g.6534146C>T
  • NM_020631.4:c.518G>A
Protein change:
R173Q
Links:
dbSNP: rs142378760
NCBI 1000 Genomes Browser:
rs142378760
Molecular consequence:
  • NM_001042663.3:c.629G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042664.1:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042665.1:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265592.2:c.629G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265593.1:c.725G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265594.2:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020631.6:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198681.4:c.518G>A - 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
SCV000292664GeneDxcriteria provided, single submitter
Uncertain significance
(Feb 25, 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, SCV000292664.7

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

Description

The R173Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The R173Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position where amino acids with similar properties to Arginine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is 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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