NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) AND Kufor-Rakeb syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 27, 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:: RCV001097255.12

Allele description [Variation Report for NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe)]

NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe)

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.2836A>T (p.Ile946Phe)

HGVS:

NC_000001.11:g.16988161T>A
NG_009054.1:g.28768A>T
NM_001141973.3:c.2821A>T
NM_001141974.3:c.2704A>T
NM_022089.4:c.2836A>TMANE SELECT
NP_001135445.1:p.Ile941Phe
NP_001135446.1:p.Ile902Phe
NP_071372.1:p.Ile946Phe
LRG_834t1:c.2836A>T
LRG_834:g.28768A>T
LRG_834p1:p.Ile946Phe
NC_000001.10:g.17314656T>A
NM_022089.2:c.2836A>T
NM_022089.3:c.2836A>T
Q9NQ11:p.Ile946Phe

Protein change:

I902F

Links:

UniProtKB: Q9NQ11#VAR_058461; dbSNP: rs55708915

NCBI 1000 Genomes Browser:

rs55708915

Molecular consequence:

NM_001141973.3:c.2821A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001141974.3:c.2704A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_022089.4:c.2836A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Kufor-Rakeb syndrome (KRS)
Synonyms:: Park 9; Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia; PARKINSON DISEASE 9, AUTOSOMAL RECESSIVE, JUVENILE-ONSET
Identifiers:: MONDO: MONDO:0011706; MedGen: C1847640; Orphanet: 306674; Orphanet: 314632; OMIM: 606693

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001253516	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 27, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001253516

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 27, 2017)

germline

clinical testing

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

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

Citations

PubMed

ATP13A2 variants in early-onset Parkinson's disease patients and controls.

Djarmati A, Hagenah J, Reetz K, Winkler S, Behrens MI, Pawlack H, Lohmann K, Ramirez A, Tadić V, Brüggemann N, Berg D, Siebner HR, Lang AE, Pramstaller PP, Binkofski F, Kostić VS, Volkmann J, Gasser T, Klein C.

Mov Disord. 2009 Oct 30;24(14):2104-11. doi: 10.1002/mds.22728.

PubMed [citation]

PMID:: 19705361

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001253516.1

#	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 observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#	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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