NM_022835.3(PLEKHG2):c.3046G>A (p.Val1016Ile) AND Leukodystrophy and acquired microcephaly with or without dystonia;

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Aug 31, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001331262.4

Allele description [Variation Report for NM_022835.3(PLEKHG2):c.3046G>A (p.Val1016Ile)]

NM_022835.3(PLEKHG2):c.3046G>A (p.Val1016Ile)

Gene:

PLEKHG2:pleckstrin homology and RhoGEF domain containing G2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_022835.3(PLEKHG2):c.3046G>A (p.Val1016Ile)

HGVS:

NC_000019.10:g.39424179G>A
NG_054904.1:g.16598G>A
NM_001351693.2:c.2869G>A
NM_001351694.2:c.1678-1059G>A
NM_022835.3:c.3046G>AMANE SELECT
NP_001338622.1:p.Val957Ile
NP_073746.2:p.Val1016Ile
NC_000019.9:g.39914819G>A
NM_022835.2:c.3046G>A

Protein change:

V1016I

Links:

dbSNP: rs144287050

NCBI 1000 Genomes Browser:

rs144287050

Molecular consequence:

NM_001351694.2:c.1678-1059G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001351693.2:c.2869G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_022835.3:c.3046G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Leukodystrophy and acquired microcephaly with or without dystonia;
Synonyms:: Leukodystrophy and acquired microcephaly with or without dystonia
Identifiers:: MONDO: MONDO:0014766; MedGen: C4225213; OMIM: 616763

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001523264	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 19, 2019)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003811174	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 31, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001523264

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 19, 2019)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV003811174

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 31, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV001523264.1

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

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

From Revvity Omics, Revvity, SCV003811174.2

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

#	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: Oct 26, 2024

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