NM_020631.6(PLEKHG5):c.532G>A (p.Gly178Arg) AND PLEKHG5-related disorder

Germline classification:: Likely benign (1 submission)
Last evaluated:: May 15, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003957553.2

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.532G>A (p.Gly178Arg)]

NM_020631.6(PLEKHG5):c.532G>A (p.Gly178Arg)

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.532G>A (p.Gly178Arg)

Other names:

p.Gly178Arg

HGVS:

NC_000001.11:g.6474072C>T
NG_007978.1:g.50938G>A
NM_001042663.3:c.643G>A
NM_001042664.2:c.532G>A
NM_001042665.2:c.532G>A
NM_001265592.2:c.643G>A
NM_001265593.2:c.739G>A
NM_001265594.3:c.532G>A
NM_020631.5:c.532G>A
NM_020631.6:c.532G>AMANE SELECT
NM_198681.4:c.532G>A
NP_001036128.2:p.Gly215Arg
NP_001036129.1:p.Gly178Arg
NP_001036129.1:p.Gly178Arg
NP_001036130.1:p.Gly178Arg
NP_001036130.1:p.Gly178Arg
NP_001252521.2:p.Gly215Arg
NP_001252522.1:p.Gly247Arg
NP_001252522.1:p.Gly247Arg
NP_001252523.1:p.Gly178Arg
NP_001252523.1:p.Gly178Arg
NP_065682.2:p.Gly178Arg
NP_065682.2:p.Gly178Arg
NP_941374.3:p.Gly178Arg
LRG_262t1:c.532G>A
LRG_262:g.50938G>A
LRG_262p1:p.Gly178Arg
NC_000001.10:g.6534132C>T
NM_001042664.1:c.532G>A
NM_001042665.1:c.532G>A
NM_001265593.1:c.739G>A
NM_001265594.2:c.532G>A
NM_020631.3:c.532G>A
NM_020631.4:c.532G>A

Protein change:

G178R

Links:

dbSNP: rs143484278

Molecular consequence:

NM_001042663.3:c.643G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042664.2:c.532G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042665.2:c.532G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001265592.2:c.643G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001265593.2:c.739G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001265594.3:c.532G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020631.6:c.532G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198681.4:c.532G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: PLEKHG5-related disorder
Synonyms:: PLEKHG5-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004784201	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely benign (May 15, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004784201

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely benign
(May 15, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004784201.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 12, 2026

ClinVar

Relating variation to medicine