NM_020631.6(PLEKHG5):c.395C>T (p.Thr132Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 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:
RCV000235373.1

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.395C>T (p.Thr132Ile)]

NM_020631.6(PLEKHG5):c.395C>T (p.Thr132Ile)

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.395C>T (p.Thr132Ile)
HGVS:
  • NC_000001.11:g.6474495G>A
  • NG_007978.1:g.50515C>T
  • NM_001042663.3:c.506C>T
  • NM_001042664.1:c.395C>T
  • NM_001042665.1:c.395C>T
  • NM_001265592.2:c.506C>T
  • NM_001265593.1:c.602C>T
  • NM_001265594.2:c.395C>T
  • NM_020631.6:c.395C>TMANE SELECT
  • NM_198681.4:c.395C>T
  • NP_001036128.2:p.Thr169Ile
  • NP_001036129.1:p.Thr132Ile
  • NP_001036130.1:p.Thr132Ile
  • NP_001252521.2:p.Thr169Ile
  • NP_001252522.1:p.Thr201Ile
  • NP_001252523.1:p.Thr132Ile
  • NP_065682.2:p.Thr132Ile
  • NP_941374.3:p.Thr132Ile
  • LRG_262:g.50515C>T
  • NC_000001.10:g.6534555G>A
  • NM_020631.4:c.395C>T
Protein change:
T132I
Links:
dbSNP: rs761640668
NCBI 1000 Genomes Browser:
rs761640668
Molecular consequence:
  • NM_001042663.3:c.506C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042664.1:c.395C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042665.1:c.395C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265592.2:c.506C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265593.1:c.602C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265594.2:c.395C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020631.6:c.395C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198681.4:c.395C>T - 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
SCV000292806GeneDxcriteria provided, single submitter
Uncertain significance
(Apr 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, SCV000292806.10

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

Description

The T132I variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T132I 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. This substitution occurs at a position that is conserved in mammals. However, in silico analysis predicts this variant likely does not alter 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: Nov 27, 2021

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