U.S. flag

An official website of the United States government

NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter) AND Autosomal recessive spastic paraplegia type 78

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 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:
RCV000415542.2

Allele description [Variation Report for NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter)]

NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter)

Gene:
ATP13A2:ATPase cation transporting 13A2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter)
HGVS:
  • NC_000001.11:g.16986346G>A
  • NG_009054.1:g.30583C>T
  • NG_029688.1:g.241C>T
  • NM_001141973.3:c.3403C>T
  • NM_001141974.3:c.3116C>T
  • NM_022089.4:c.3418C>TMANE SELECT
  • NP_001135445.1:p.Gln1135Ter
  • NP_001135446.1:p.Pro1039Leu
  • NP_071372.1:p.Gln1140Ter
  • LRG_834t1:c.3418C>T
  • LRG_834:g.30583C>T
  • LRG_834p1:p.Gln1140Ter
  • NC_000001.10:g.17312841G>A
  • NM_001141973.1:c.3403C>T
  • NM_001141973.2:c.3403C>T
Protein change:
P1039L; GLN1135TER
Links:
OMIM: 610513.0013; dbSNP: rs1057519289
NCBI 1000 Genomes Browser:
rs1057519289
Molecular consequence:
  • NM_001141974.3:c.3116C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001141973.3:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_022089.4:c.3418C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Autosomal recessive spastic paraplegia type 78
Identifiers:
MONDO: MONDO:0014975; MedGen: C5567893; OMIM: 617225

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
SCV000493972OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 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

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

Estrada-Cuzcano A, Martin S, Chamova T, Synofzik M, Timmann D, Holemans T, Andreeva A, Reichbauer J, De Rycke R, Chang DI, van Veen S, Samuel J, Schöls L, Pöppel T, Mollerup Sørensen D, Asselbergh B, Klein C, Zuchner S, Jordanova A, Vangheluwe P, Tournev I, Schüle R.

Brain. 2017 Feb;140(2):287-305. doi: 10.1093/brain/aww307.

PubMed [citation]
PMID:
28137957
PMCID:
PMC5278306

Details of each submission

From OMIM, SCV000493972.2

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

Description

For discussion of the c.3403C-T transition (c.3403C-T, NM_001141973.1) in the ATP13A2 gene, resulting in a gln1135-to-ter (Q1135X) substitution, that was found in compound heterozygous state in a patient with autosomal recessive spastic paraplegia-78 (SPG78; 617225) by Estrada-Cuzcano et al. (2017), see 610513.0012.

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

Last Updated: Oct 26, 2024