NM_022089.4(ATP13A2):c.3145G>A (p.Val1049Met) AND History of neurodevelopmental disorder

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Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 12, 2017
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:: RCV000717857.1

Allele description

NM_022089.4(ATP13A2):c.3145G>A (p.Val1049Met)

Gene:

ATP13A2:ATPase cation transporting 13A2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.13

Genomic location:

Preferred name:

NM_022089.4(ATP13A2):c.3145G>A (p.Val1049Met)

HGVS:

NC_000001.11:g.16986895C>T
NG_009054.1:g.30034G>A
NM_001141973.3:c.3130G>A
NM_001141974.3:c.3013G>A
NM_022089.4:c.3145G>AMANE SELECT
NP_001135445.1:p.Val1044Met
NP_001135446.1:p.Val1005Met
NP_071372.1:p.Val1049Met
LRG_834t1:c.3145G>A
LRG_834:g.30034G>A
LRG_834p1:p.Val1049Met
NC_000001.10:g.17313390C>T
NM_022089.2:c.3145G>A

Protein change:

V1005M

Links:

dbSNP: rs750963832

NCBI 1000 Genomes Browser:

rs750963832

Molecular consequence:

NM_001141973.3:c.3130G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001141974.3:c.3013G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_022089.4:c.3145G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: History of neurodevelopmental disorder
Identifiers:: MedGen: C2711754

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000848717	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Uncertain significance (Jan 12, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000848717

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Uncertain significance
(Jan 12, 2017)

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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000848717.3

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

Description

The p.V1049M variant (also known as c.3145G>A), located in coding exon 27 of the ATP13A2 gene, results from a G to A substitution at nucleotide position 3145. The valine at codon 1049 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well 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 variant remains unclear.

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

Last Updated: Apr 23, 2022

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