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NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) AND Autosomal recessive Parkinson disease 14

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 12, 2010
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000023314.5

Allele description [Variation Report for NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln)]

NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln)

Gene:
PLA2G6:phospholipase A2 group VI [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.1
Genomic location:
Preferred name:
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln)
Other names:
NM_003560.4(PLA2G6):c.1904G>A; p.Arg635Gln
HGVS:
  • NC_000022.11:g.38115657C>T
  • NG_007094.3:g.104122G>A
  • NG_033059.2:g.13G>A
  • NM_001004426.3:c.1742G>A
  • NM_001199562.3:c.1742G>A
  • NM_001349864.2:c.1904G>A
  • NM_001349865.2:c.1742G>A
  • NM_001349866.2:c.1742G>A
  • NM_001349867.2:c.1370G>A
  • NM_001349868.2:c.1226G>A
  • NM_001349869.2:c.1208G>A
  • NM_003560.4:c.1904G>AMANE SELECT
  • NP_001004426.1:p.Arg581Gln
  • NP_001186491.1:p.Arg581Gln
  • NP_001336793.1:p.Arg635Gln
  • NP_001336794.1:p.Arg581Gln
  • NP_001336795.1:p.Arg581Gln
  • NP_001336796.1:p.Arg457Gln
  • NP_001336797.1:p.Arg409Gln
  • NP_001336798.1:p.Arg403Gln
  • NP_003551.2:p.Arg635Gln
  • LRG_1015t1:c.1904G>A
  • LRG_1015:g.104122G>A
  • LRG_1015p1:p.Arg635Gln
  • NC_000022.10:g.38511664C>T
  • NC_000022.11:g.38115657C>T
  • NG_007094.2:g.95034G>A
  • NM_003560.2:c.1904G>A
Protein change:
R403Q; ARG635GLN
Links:
OMIM: 603604.0011; dbSNP: rs387906863
NCBI 1000 Genomes Browser:
rs387906863
Molecular consequence:
  • NM_001004426.3:c.1742G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199562.3:c.1742G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349864.2:c.1904G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349865.2:c.1742G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349866.2:c.1742G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349867.2:c.1370G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349868.2:c.1226G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001349869.2:c.1208G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003560.4:c.1904G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive Parkinson disease 14
Synonyms:
DYSTONIA-PARKINSONISM, ADULT-ONSET; Parkinson disease 14
Identifiers:
MONDO: MONDO:0013060; MedGen: C2751842; Orphanet: 199351; OMIM: 612953

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044605OMIM
no assertion criteria provided
Pathogenic
(Oct 12, 2010) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism.

Yoshino H, Tomiyama H, Tachibana N, Ogaki K, Li Y, Funayama M, Hashimoto T, Takashima S, Hattori N.

Neurology. 2010 Oct 12;75(15):1356-61. doi: 10.1212/WNL.0b013e3181f73649.

PubMed [citation]
PMID:
20938027

Details of each submission

From OMIM, SCV000044605.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 3 Japanese patients, including 2 sibs, with early-onset Parkinson disease-14 (PARK14; 612953), Yoshino et al. (2010) identified compound heterozygosity for 2 mutations in the PLA2G6 gene. All 3 patients carried a 1904G-A transition, resulting in an arg635-to-gln (R635Q) substitution in the catalytic domain. The 2 sibs also had a heterozygous 1354C-T transition, resulting in a gln452-to-ter (Q452X; 603604.0012) substitution, and the third unrelated patient had a heterozygous 216C-A transversion, resulting in a phe72-to-leu (F72L; 603604.0013) substitution. Haplotype analysis suggested a founder effect for the R635Q mutation. All 3 patients had onset before age 30 years of L-DOPA-responsive parkinsonism with varying degrees of cognitive decline and frontotemporal lobar atrophy. Brain MRI of 1 patient showed iron accumulation in the substantia nigra and striatum. None of the parents with heterozygous mutations had signs of the disorder.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 26, 2024