U.S. flag

An official website of the United States government

NM_203446.3(SYNJ1):c.1259G>C (p.Arg420Pro) AND Early-onset Parkinson disease 20

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 8, 2017
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:
RCV000445361.1

Allele description [Variation Report for NM_203446.3(SYNJ1):c.1259G>C (p.Arg420Pro)]

NM_203446.3(SYNJ1):c.1259G>C (p.Arg420Pro)

Gene:
SYNJ1:synaptojanin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.11
Genomic location:
Preferred name:
NM_203446.3(SYNJ1):c.1259G>C (p.Arg420Pro)
HGVS:
  • NC_000021.9:g.32681590C>G
  • NG_030017.2:g.51450G>C
  • NM_001160302.2:c.1259G>C
  • NM_001160306.2:c.1259G>C
  • NM_003895.4:c.1376G>C
  • NM_203446.3:c.1259G>CMANE SELECT
  • NP_001153774.1:p.Arg420Pro
  • NP_001153774.1:p.Arg420Pro
  • NP_001153778.1:p.Arg420Pro
  • NP_003886.3:p.Arg459Pro
  • NP_003886.3:p.Arg459Pro
  • NP_982271.2:p.Arg459Pro
  • NP_982271.3:p.Arg420Pro
  • NC_000021.8:g.34053900C>G
  • NG_030017.1:g.51452G>C
  • NM_001160302.1:c.1259G>C
  • NM_003895.3:c.1376G>C
  • NM_203446.2:c.1376G>C
Note:
NCBI staff reviewed the trace in Figure 1 of the paper by Kirola et al., 2017, (PubMed 27496670) to establish the HGVS expression for this variant.
Protein change:
R420P; ARG459PRO
Links:
OMIM: 604297.0002; dbSNP: rs1060499619
NCBI 1000 Genomes Browser:
rs1060499619
Molecular consequence:
  • NM_001160302.2:c.1259G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160306.2:c.1259G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003895.4:c.1376G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_203446.3:c.1259G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Early-onset Parkinson disease 20
Identifiers:
MONDO: MONDO:0014233; MedGen: C3809824; Orphanet: 391411; OMIM: 615530

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000536942OMIM
no assertion criteria provided
Pathogenic
(Mar 8, 2017) 		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

Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism.

Kirola L, Behari M, Shishir C, Thelma BK.

Parkinsonism Relat Disord. 2016 Oct;31:124-128. doi: 10.1016/j.parkreldis.2016.07.014. Epub 2016 Jul 26.

PubMed [citation]
PMID:
27496670

Details of each submission

From OMIM, SCV000536942.1

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

Description

In 2 sibs, born of consanguineous Indian parents, with early-onset Parkinson disease-20 (PARK20; 615530), Kirola et al. (2016) identified a homozygous c.1376C-G transversion (c.1376C-G, NM_203446.2) in exon 11 of the SYNJ1 gene, resulting in an arg459-to-pro (R459P) substitution at a highly conserved residue in the Snc1 domain. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was not found in the dbSNP, 1000 Genomes Project, Exome Sequencing Project, or ExAC databases, or in 250 ethnically matched controls. Functional studies of the variant and studies of patient cells were not performed.

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

Last Updated: Mar 26, 2023