U.S. flag

An official website of the United States government

NM_020821.3(VPS13C):c.4165G>C (p.Gly1389Arg) AND Autosomal recessive early-onset Parkinson disease 23

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 20, 2019
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:
RCV000210217.2

Allele description [Variation Report for NM_020821.3(VPS13C):c.4165G>C (p.Gly1389Arg)]

NM_020821.3(VPS13C):c.4165G>C (p.Gly1389Arg)

Gene:
VPS13C:vacuolar protein sorting 13 homolog C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.2
Genomic location:
Preferred name:
NM_020821.3(VPS13C):c.4165G>C (p.Gly1389Arg)
HGVS:
  • NC_000015.10:g.61958608C>G
  • NG_027782.1:g.106858G>C
  • NM_001018088.3:c.4165G>C
  • NM_017684.5:c.4036G>C
  • NM_018080.4:c.4036G>C
  • NM_020821.3:c.4165G>CMANE SELECT
  • NP_001018098.1:p.Gly1389Arg
  • NP_060154.3:p.Gly1346Arg
  • NP_060550.2:p.Gly1346Arg
  • NP_065872.1:p.Gly1389Arg
  • NC_000015.9:g.62250807C>G
  • NM_020821.2:c.4165G>C
Protein change:
G1346R; GLY1389ARG
Links:
OMIM: 608879.0004; dbSNP: rs369100678
NCBI 1000 Genomes Browser:
rs369100678
Molecular consequence:
  • NM_001018088.3:c.4165G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017684.5:c.4036G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018080.4:c.4036G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020821.3:c.4165G>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on RNA splicing [Variation Ontology: 0362]

Condition(s)

Name:
Autosomal recessive early-onset Parkinson disease 23
Identifiers:
MONDO: MONDO:0014796; MedGen: C4225186; Orphanet: 2828; OMIM: 616840

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
SCV000266250OMIM
no assertion criteria provided
Pathogenic
(Dec 20, 2019) 		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

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, et al.

Am J Hum Genet. 2016 Mar 3;98(3):500-513. doi: 10.1016/j.ajhg.2016.01.014.

PubMed [citation]
PMID:
26942284
PMCID:
PMC4800038

Details of each submission

From OMIM, SCV000266250.1

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

Description

In a French woman with autosomal recessive early-onset Parkinson disease-23 (PARK23; 616840), Lesage et al. (2016) identified compound heterozygous mutations in the VPS13C gene: a c.4165G-C transversion (c.4165G-C, NM_020821.2) in exon 37, resulting in a gly1389-to-arg (G1389R) substitution, and a 1-bp deletion (c.4777delC; 608879.0005) in exon 43, resulting in a frameshift and premature termination (Gln1593LysfsTer7). The mutations, which were found by homozygosity mapping and exome sequencing, were confirmed by Sanger sequencing. They were not found in the dbSNP (build 137), 1000 Genomes Project, Exome Variant Server, or ExAC databases, although G1389R was found on 1 control chromosome. The patient's unaffected mother was heterozygous for 1 of the mutations, but DNA from the father was not available.

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

Last Updated: Apr 20, 2024