NM_004562.3(PRKN):c.633A>T (p.Lys211Asn) AND Autosomal recessive juvenile Parkinson disease 2

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: May 9, 2023
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:: RCV000007467.7

Allele description [Variation Report for NM_004562.3(PRKN):c.633A>T (p.Lys211Asn)]

NM_004562.3(PRKN):c.633A>T (p.Lys211Asn)

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.633A>T (p.Lys211Asn)

HGVS:

NC_000006.12:g.161973403T>A
NG_008289.2:g.759400A>T
NM_004562.3:c.633A>TMANE SELECT
NM_013987.3:c.549A>T
NM_013988.3:c.186A>T
NP_004553.2:p.Lys211Asn
NP_054642.2:p.Lys183Asn
NP_054643.2:p.Lys62Asn
NC_000006.11:g.162394435T>A
O60260:p.Lys211Asn

Protein change:

K183N; LYS211ASN

Links:

UniProtKB: O60260#VAR_019744; OMIM: 602544.0018; dbSNP: rs137853060

NCBI 1000 Genomes Browser:

rs137853060

Molecular consequence:

NM_004562.3:c.633A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_013987.3:c.549A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_013988.3:c.186A>T - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027667	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2005)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV004704497	Human Genetics Bochum, Ruhr University Bochum	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 9, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027667

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2005)

germline

literature only

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

SCV004704497

Human Genetics Bochum, Ruhr University Bochum

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 9, 2023)

germline

clinical testing

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

Help

Summary from all submissions

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

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

Klein C, Djarmati A, Hedrich K, Schäfer N, Scaglione C, Marchese R, Kock N, Schüle B, Hiller A, Lohnau T, Winkler S, Wiegers K, Hering R, Bauer P, Riess O, Abbruzzese G, Martinelli P, Pramstaller PP.

Eur J Hum Genet. 2005 Sep;13(9):1086-93.

PubMed [citation]

PMID:: 15970950

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From OMIM, SCV000027667.4

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

Description

For discussion of the 734A-T transversion in exon 6 of the PARK2 gene, resulting in a lys211-to-asn (K211N) substitution, that was found in compound heterozygous state in an Italian patient with Parkinson disease (PARK2; 600116) by Klein et al. (2005), see 602544.0017.

#	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 Human Genetics Bochum, Ruhr University Bochum, SCV004704497.1

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

Description

ACMG criteria used to clasify this variant: PM1, PP3_MOD, PS3_SUP, PP2

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

Last Updated: Oct 26, 2024

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