NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met) AND none provided

Clinical significance:Uncertain significance (Last evaluated: Jul 30, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001284857.2

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met)]

NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met)

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.307G>A (p.Val103Met)
HGVS:
  • NC_000001.11:g.6474583C>T
  • NG_007978.1:g.50427G>A
  • NM_001042663.3:c.418G>A
  • NM_001042664.1:c.307G>A
  • NM_001042665.1:c.307G>A
  • NM_001265592.2:c.418G>A
  • NM_001265593.1:c.514G>A
  • NM_001265594.2:c.307G>A
  • NM_020631.6:c.307G>AMANE SELECT
  • NM_198681.4:c.307G>A
  • NP_001036128.2:p.Val140Met
  • NP_001036129.1:p.Val103Met
  • NP_001036130.1:p.Val103Met
  • NP_001252521.2:p.Val140Met
  • NP_001252522.1:p.Val172Met
  • NP_001252523.1:p.Val103Met
  • NP_065682.2:p.Val103Met
  • NP_941374.3:p.Val103Met
  • LRG_262:g.50427G>A
  • NC_000001.10:g.6534643C>T
  • NM_020631.4:c.307G>A
Protein change:
V103M
Links:
dbSNP: rs141032388
NCBI 1000 Genomes Browser:
rs141032388
Molecular consequence:
  • NM_001042663.3:c.418G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042664.1:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042665.1:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265592.2:c.418G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265593.1:c.514G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001265594.2:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020631.6:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198681.4:c.307G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001470950ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Jul 30, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001470950.1

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

Description

The PLEKHG5 c.307G>A; p.Val103Met variant (rs141032388), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 245660). This variant is found in the general population with an allele frequency of 0.19% (531/281,480 alleles) in the Genome Aggregation Database. The valine at codon 103 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of this variant is uncertain at this time.

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

Last Updated: Nov 27, 2021

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