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NM_020821.3(VPS13C):c.806_807insCAGA (p.Arg269fs) AND Parkinson disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 16, 2015
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:
RCV000236948.3

Allele description [Variation Report for NM_020821.3(VPS13C):c.806_807insCAGA (p.Arg269fs)]

NM_020821.3(VPS13C):c.806_807insCAGA (p.Arg269fs)

Gene:
VPS13C:vacuolar protein sorting 13 homolog C [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
15q22.2
Genomic location:
Preferred name:
NM_020821.3(VPS13C):c.806_807insCAGA (p.Arg269fs)
HGVS:
  • NC_000015.10:g.62013057_62013058insTCTG
  • NG_027782.1:g.52408_52409insCAGA
  • NM_001018088.3:c.806_807insCAGA
  • NM_017684.5:c.677_678insCAGA
  • NM_018080.4:c.677_678insCAGA
  • NM_020821.3:c.806_807insCAGAMANE SELECT
  • NP_001018098.1:p.Arg269fs
  • NP_060154.3:p.Arg226fs
  • NP_060550.2:p.Arg226fs
  • NP_065872.1:p.Arg269fs
  • NC_000015.9:g.62305256_62305257insTCTG
  • NM_020821.2:c.806_807insCAGA
Protein change:
R226fs
Links:
dbSNP: rs879253853
NCBI 1000 Genomes Browser:
rs879253853
Molecular consequence:
  • NM_001018088.3:c.806_807insCAGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_017684.5:c.677_678insCAGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018080.4:c.677_678insCAGA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_020821.3:c.806_807insCAGA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Parkinson disease (PD)
Identifiers:
MONDO: MONDO:0005180; MeSH: D010300; MedGen: C0030567; OMIM: PS168600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000262817Brain and Spine Institute, INSERM
criteria provided, single submitter

(Lesage et al. (Am J Hum Genet. 2016))		Pathogenic
(Nov 16, 2015) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes11not providednot providednot providedresearch
not providedinheritedno1not providednot providednot providednot providedresearch

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 Brain and Spine Institute, INSERM, SCV000262817.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
2not provided1not providednot providedresearch PubMed (1)

Description

This pathogenic variant was observed in trans with pathogenic variant NM_020821.2:c.9568G>T in an individual with Parkinson disease.

This pathogenic variant was observed in trans with pathogenic variant NM_020821.2:c.9568G>T in an individual with Parkinson disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not provided1not provided
2inheritednonot providednot providednot provided1not providednot providednot provided

Last Updated: May 7, 2024