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NM_016529.6(ATP8A2):c.210del (p.Asp70fs) AND Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 25, 2018
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:
RCV001195731.2

Allele description [Variation Report for NM_016529.6(ATP8A2):c.210del (p.Asp70fs)]

NM_016529.6(ATP8A2):c.210del (p.Asp70fs)

Gene:
ATP8A2:ATPase phospholipid transporting 8A2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.13
Genomic location:
Preferred name:
NM_016529.6(ATP8A2):c.210del (p.Asp70fs)
HGVS:
  • NC_000013.11:g.25469110del
  • NG_042855.1:g.102100del
  • NM_001313741.1:c.90del
  • NM_016529.6:c.210delMANE SELECT
  • NP_001300670.1:p.Asp30fs
  • NP_057613.4:p.Asp70fs
  • NC_000013.10:g.26043248del
  • NM_016529.4:c.210delC
Protein change:
D30fs
Links:
dbSNP: rs2035763126
NCBI 1000 Genomes Browser:
rs2035763126
Molecular consequence:
  • NM_001313741.1:c.90del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_016529.6:c.210del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 (CAMRQ4)
Synonyms:
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 4; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4; Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4
Identifiers:
MONDO: MONDO:0014104; MedGen: C3808977; Orphanet: 1766; OMIM: 615268

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001366151Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Oct 25, 2018) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot 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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV001366151.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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

Last Updated: May 7, 2024