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NM_022089.4(ATP13A2):c.3084-3C>T AND Autosomal recessive spastic paraplegia type 78

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 14, 2021
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:
RCV001554183.10

Allele description [Variation Report for NM_022089.4(ATP13A2):c.3084-3C>T]

NM_022089.4(ATP13A2):c.3084-3C>T

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.3084-3C>T
HGVS:
  • NC_000001.11:g.16986959G>A
  • NG_009054.1:g.29970C>T
  • NM_001141973.3:c.3069-3C>T
  • NM_001141974.3:c.2952-3C>T
  • NM_022089.4:c.3084-3C>TMANE SELECT
  • LRG_834t1:c.3084-3C>T
  • LRG_834:g.29970C>T
  • NC_000001.10:g.17313454G>A
  • NM_022089.2:c.3084-3C>T
Links:
dbSNP: rs7531163
NCBI 1000 Genomes Browser:
rs7531163
Molecular consequence:
  • NM_001141973.3:c.3069-3C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001141974.3:c.2952-3C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022089.4:c.3084-3C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001775397Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 14, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV001775397.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024