NM_020631.6(PLEKHG5):c.274G>A (p.Val92Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 23, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000236807.1

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.274G>A (p.Val92Ile)]

NM_020631.6(PLEKHG5):c.274G>A (p.Val92Ile)

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.274G>A (p.Val92Ile)
HGVS:
  • NC_000001.11:g.6475075C>T
  • NG_007978.1:g.49935G>A
  • NM_001042663.3:c.385G>A
  • NM_001042664.1:c.274G>A
  • NM_001042665.1:c.274G>A
  • NM_001265592.2:c.385G>A
  • NM_001265593.1:c.481G>A
  • NM_001265594.2:c.274G>A
  • NM_020631.6:c.274G>AMANE SELECT
  • NM_198681.4:c.274G>A
  • NP_001036128.2:p.Val129Ile
  • NP_001036129.1:p.Val92Ile
  • NP_001036130.1:p.Val92Ile
  • NP_001252521.2:p.Val129Ile
  • NP_001252522.1:p.Val161Ile
  • NP_001252523.1:p.Val92Ile
  • NP_065682.2:p.Val92Ile
  • NP_941374.3:p.Val92Ile
  • LRG_262:g.49935G>A
  • NC_000001.10:g.6535135C>T
  • NM_020631.4:c.274G>A
Protein change:
V129I
Links:
dbSNP: rs371516662
NCBI 1000 Genomes Browser:
rs371516662
Molecular consequence:
  • NM_001042663.3:c.385G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042664.1:c.274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042665.1:c.274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265592.2:c.385G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265593.1:c.481G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265594.2:c.274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020631.6:c.274G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198681.4:c.274G>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
SCV000293040GeneDxcriteria provided, single submitter
Uncertain significance
(Jul 23, 2015)
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, SCV000293040.9

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

Description

The V92I variant has not been published as pathogenic, nor has it been reported as a benign polymorphism to our knowledge. The V92I variant 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 V92I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic or a rare benign variant.

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

Last Updated: Oct 30, 2021

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