NM_020631.6(PLEKHG5):c.1543-2A>G AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 8, 2021
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:: RCV002403208.2

Allele description [Variation Report for NM_020631.6(PLEKHG5):c.1543-2A>G]

NM_020631.6(PLEKHG5):c.1543-2A>G

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.1543-2A>G

HGVS:

NC_000001.11:g.6470645T>C
NG_007978.1:g.54365A>G
NG_029910.1:g.551A>G
NM_001042663.3:c.1654-2A>G
NM_001042664.2:c.1543-2A>G
NM_001042665.2:c.1543-2A>G
NM_001265592.2:c.1654-2A>G
NM_001265593.2:c.1750-2A>G
NM_001265594.3:c.1543-2A>G
NM_020631.4:c.1543-2A>G
NM_020631.6:c.1543-2A>GMANE SELECT
NM_198681.4:c.1543-2A>G
LRG_262t1:c.1543-2A>G
LRG_262:g.54365A>G
NC_000001.10:g.6530705T>C
NM_020631.3:c.1543-2A>G

Molecular consequence:

NM_001042663.3:c.1654-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001042664.2:c.1543-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001042665.2:c.1543-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001265592.2:c.1654-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001265593.2:c.1750-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001265594.3:c.1543-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_020631.6:c.1543-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_198681.4:c.1543-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV002705911	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 8, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002705911

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 8, 2021)

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, SCV002705911.2

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

Description

The c.1543-2A>G intronic variant results from an A to G substitution two nucleotides upstream from coding exon 14 in the PLEKHG5 gene. Alterations that disrupt the canonical splice site are expected to result in aberrant splicing. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site. The resulting transcript is predicted to be in-frame and is not expected to trigger nonsense-mediated mRNA decay; however, direct evidence is unavailable. The exact functional effect of the missing amino acids is unknown. This nucleotide position is highly conserved in available vertebrate species. 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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