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NM_020821.3(VPS13C):c.8445+2T>G AND Autosomal recessive early-onset Parkinson disease 23

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 18, 2016
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:
RCV000210216.1

Allele description [Variation Report for NM_020821.3(VPS13C):c.8445+2T>G]

NM_020821.3(VPS13C):c.8445+2T>G

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.8445+2T>G
HGVS:
  • NC_000015.10:g.61915631A>C
  • NG_027782.1:g.149835T>G
  • NM_001018088.3:c.8445+2T>G
  • NM_017684.5:c.8316+2T>G
  • NM_018080.4:c.8316+2T>G
  • NM_020821.3:c.8445+2T>GMANE SELECT
  • NC_000015.9:g.62207830A>C
  • NM_020821.2:c.8445+2T>G
Nucleotide change:
IVS61DS, T-G, +2
Links:
OMIM: 608879.0001; dbSNP: rs869312809
NCBI 1000 Genomes Browser:
rs869312809
Molecular consequence:
  • NM_001018088.3:c.8445+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_017684.5:c.8316+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_018080.4:c.8316+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_020821.3:c.8445+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000266247OMIM
no assertion criteria provided
Pathogenic
(Mar 18, 2016) 		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, SCV000266247.1

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

Description

In a Turkish woman, born of consanguineous parents, with autosomal recessive early-onset Parkinson disease-23 (PARK23; 616840), Lesage et al. (2016) identified a homozygous T-to-G transversion in intron 61 (c.8445+2T-G, NM_020821.2) of the VPS13C gene, resulting in a splice site mutation. The mutation, which was found by homozygosity mapping and exome sequencing, was confirmed by Sanger sequencing. It was not found in the dbSNP (build 137), 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 200 Turkish control chromosomes. Several unaffected family members, including 1 of the parents, were heterozygous for the mutation. Patient cells showed the presence of several abnormal transcripts, confirming that the mutation resulted in a splicing defect.

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

Last Updated: May 7, 2024