NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg) AND Kufor-Rakeb syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 4, 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:: RCV000001280.6

Allele description [Variation Report for NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg)]

NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg)

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.1510G>C (p.Gly504Arg)

HGVS:

NC_000001.11:g.16996008C>G
NG_009054.1:g.20921G>C
NM_001141973.3:c.1495G>C
NM_001141974.3:c.1495G>C
NM_022089.4:c.1510G>CMANE SELECT
NP_001135445.1:p.Gly499Arg
NP_001135446.1:p.Gly499Arg
NP_071372.1:p.Gly504Arg
LRG_834t1:c.1510G>C
LRG_834:g.20921G>C
LRG_834p1:p.Gly504Arg
NC_000001.10:g.17322503C>G
Q9NQ11:p.Gly504Arg

Protein change:

G499R; GLY504ARG

Links:

UniProtKB: Q9NQ11#VAR_058455; OMIM: 610513.0004; dbSNP: rs121918227

NCBI 1000 Genomes Browser:

rs121918227

Molecular consequence:

NM_001141973.3:c.1495G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001141974.3:c.1495G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_022089.4:c.1510G>C - 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
SCV000021430	OMIM	no assertion criteria provided	Pathogenic (May 8, 2007)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV002518548	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021430

OMIM

no assertion criteria provided

Pathogenic
(May 8, 2007)

germline

literature only

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

SCV002518548

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 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
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease.

Di Fonzo A, Chien HF, Socal M, Giraudo S, Tassorelli C, Iliceto G, Fabbrini G, Marconi R, Fincati E, Abbruzzese G, Marini P, Squitieri F, Horstink MW, Montagna P, Libera AD, Stocchi F, Goldwurm S, Ferreira JJ, Meco G, Martignoni E, Lopiano L, Jardim LB, et al.

Neurology. 2007 May 8;68(19):1557-62.

PubMed [citation]

PMID:: 17485642

Details of each submission

From OMIM, SCV000021430.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a Brazilian man with Kufor-Rakeb syndrome (KRS; 606693), Di Fonzo et al. (2007) identified a homozygous 1510G-C transversion in exon 15 of the ATP13A2 gene, resulting in a gly504-to-arg (G504R) substitution in the larger cytosolic loop close to the predicted catalytic phosphorylation site. The unaffected parents were heterozygous for the mutation, which was not found in 654 control chromosomes. The patient was diagnosed with levodopa-responsive parkinsonism at age 12 years. On examination at the age of 18, he had severe akinetic-rigid parkinsonism with episodic levodopa-induced choreic dyskinesias, visual hallucinations, and aggressive behaviors. However, his mental status remained good, and he was cognitively intact between episodes. Other features included supranuclear vertical gaze paresis, diffuse cerebral atrophy, and lip/chin tremor. He did not have myoclonus or tremor in the limbs. Di Fonzo et al. (2007) postulated that the missense mutation may have resulted in a milder phenotype than that reported for frameshift or truncating mutations.

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

From Mendelics, SCV002518548.1

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

#	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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