NM_020631.6(PLEKHG5):c.10G>A (p.Asp4Asn) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 7, 2022
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:: RCV002425311.2

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.10G>A (p.Asp4Asn)]

NM_020631.6(PLEKHG5):c.10G>A (p.Asp4Asn)

Genes:

LOC126805598:MED14-independent group 3 enhancer GRCh37_chr1:6536823-6538022 [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.10G>A (p.Asp4Asn)

HGVS:

NC_000001.11:g.6477562C>T
NG_007978.1:g.47448G>A
NG_081922.1:g.900C>T
NM_001042663.3:c.121G>A
NM_001042664.2:c.10G>A
NM_001042665.2:c.10G>A
NM_001265592.2:c.121G>A
NM_001265593.2:c.217G>A
NM_001265594.3:c.10G>A
NM_020631.6:c.10G>AMANE SELECT
NM_198681.4:c.10G>A
NP_001036128.2:p.Asp41Asn
NP_001036129.1:p.Asp4Asn
NP_001036129.1:p.Asp4Asn
NP_001036130.1:p.Asp4Asn
NP_001036130.1:p.Asp4Asn
NP_001252521.2:p.Asp41Asn
NP_001252522.1:p.Asp73Asn
NP_001252522.1:p.Asp73Asn
NP_001252523.1:p.Asp4Asn
NP_001252523.1:p.Asp4Asn
NP_065682.2:p.Asp4Asn
NP_065682.2:p.Asp4Asn
NP_941374.3:p.Asp4Asn
LRG_262t1:c.10G>A
LRG_262:g.47448G>A
LRG_262p1:p.Asp4Asn
NC_000001.10:g.6537622C>T
NM_001042664.1:c.10G>A
NM_001042665.1:c.10G>A
NM_001265593.1:c.217G>A
NM_001265594.2:c.10G>A
NM_020631.3:c.10G>A

Protein change:

D41N

Links:

dbSNP: rs372434052

NCBI 1000 Genomes Browser:

rs372434052

Molecular consequence:

NM_001042663.3:c.121G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042664.2:c.10G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042665.2:c.10G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001265592.2:c.121G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001265593.2:c.217G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001265594.3:c.10G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020631.6:c.10G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198681.4:c.10G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002742253	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 7, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002742253

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 7, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002742253.2

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

Description

The p.D4N variant (also known as c.10G>A), located in coding exon 1 of the PLEKHG5 gene, results from a G to A substitution at nucleotide position 10. The aspartic acid at codon 4 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Sep 29, 2024

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