NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr) AND Autosomal recessive juvenile Parkinson disease 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 2002
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:: RCV000007462.9

Allele description [Variation Report for NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr)]

NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr)

Gene:

PRKN:parkin RBR E3 ubiquitin protein ligase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q26

Genomic location:

Preferred name:

NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr)

HGVS:

NC_000006.12:g.161973401C>T
NG_008289.2:g.759402G>A
NM_004562.3:c.635G>AMANE SELECT
NM_013987.3:c.551G>A
NM_013988.3:c.188G>A
NP_004553.2:p.Cys212Tyr
NP_054642.2:p.Cys184Tyr
NP_054643.2:p.Cys63Tyr
NC_000006.11:g.162394433C>T
NM_004562.2:c.635G>A
O60260:p.Cys212Tyr

Protein change:

C184Y; CYS212TYR

Links:

UniProtKB: O60260#VAR_019746; OMIM: 602544.0012; dbSNP: rs137853058

NCBI 1000 Genomes Browser:

rs137853058

Molecular consequence:

NM_004562.3:c.635G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_013987.3:c.551G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_013988.3:c.188G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive juvenile Parkinson disease 2
Synonyms:: Parkinson disease, juvenile, autosomal recessive; Parkinson disease autosomal recessive, early onset; Juvenile parkinsonism; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010820; MedGen: C1868675; Orphanet: 2828; OMIM: 600116

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027662	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2002)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 11163284, 12056932

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027662

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2002)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia.

Pineda-Trujillo N, Carvajal-Carmona LG, Buriticá O, Moreno S, Uribe C, Pineda D, Toro M, García F, Arias W, Bedoya G, Lopera F, Ruiz-Linares A.

Neurosci Lett. 2001 Feb 2;298(2):87-90.

PubMed [citation]

PMID:: 11163284

Molecular findings in familial Parkinson disease in Spain.

Hoenicka J, Vidal L, Morales B, Ampuero I, Jiménez-Jiménez FJ, Berciano J, del Ser T, Jiménez A, Ruíz PG, de Yébenes JG.

Arch Neurol. 2002 Jun;59(6):966-70.

PubMed [citation]

PMID:: 12056932

Details of each submission

From OMIM, SCV000027662.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In affected members of 2 Colombian families with juvenile Parkinson disease (600116), Pineda-Trujillo et al. (2001) identified a homozygous 736G-A transition in exon 6 of the PARK2 gene, resulting in a cys212-to-tyr (C212Y) substitution.

Hoenicka et al. (2002) described a Spanish family in which 3 brothers who were compound heterozygotes for 2 mutations in the PARK2 gene, C212Y and val56 to glu (V56E; 602544.0013), developed Parkinson disease at ages 33, 33, and 27 years. The father, who was a heterozygous carrier of only the C212Y mutation, developed clinical symptoms of Parkinson disease at age 78 years.

#	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

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine