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

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 25, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: 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_001042664.2:c.518G>A
NM_001042665.2:c.518G>A
NM_001265592.2:c.629G>A
NM_001265593.2:c.725G>A
NM_001265594.3:c.518G>A
NM_020631.5: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_001036129.1:p.Arg173Gln
NP_001036130.1:p.Arg173Gln
NP_001036130.1:p.Arg173Gln
NP_001252521.2:p.Arg210Gln
NP_001252522.1:p.Arg242Gln
NP_001252522.1:p.Arg242Gln
NP_001252523.1:p.Arg173Gln
NP_001252523.1:p.Arg173Gln
NP_065682.2:p.Arg173Gln
NP_065682.2:p.Arg173Gln
NP_941374.3:p.Arg173Gln
LRG_262t1:c.518G>A
LRG_262:g.50924G>A
LRG_262p1:p.Arg173Gln
NC_000001.10:g.6534146C>T
NM_001042664.1:c.518G>A
NM_001042665.1:c.518G>A
NM_001265593.1:c.725G>A
NM_001265594.2:c.518G>A
NM_020631.3:c.518G>A
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_001042664.2:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042665.2:c.518G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001265592.2:c.629G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001265593.2:c.725G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001265594.3: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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000292664	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Feb 25, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000292664

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Feb 25, 2016)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000292664.7

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

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

Last Updated: Sep 29, 2024

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