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NM_015378.4(VPS13D):c.1414+5G>A AND Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 4, 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:
RCV003147655.1

Allele description [Variation Report for NM_015378.4(VPS13D):c.1414+5G>A]

NM_015378.4(VPS13D):c.1414+5G>A

Gene:
VPS13D:vacuolar protein sorting 13 homolog D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_015378.4(VPS13D):c.1414+5G>A
HGVS:
  • NC_000001.11:g.12261154G>A
  • NG_056877.1:g.36116G>A
  • NM_015378.2:c.1414+5G>A
  • NM_015378.4:c.1414+5G>AMANE SELECT
  • NM_018156.4:c.1414+5G>A
  • LRG_1213t1:c.1414+5G>A
  • LRG_1213:g.36116G>A
  • NC_000001.10:g.12321211G>A
Links:
dbSNP: rs190463258
NCBI 1000 Genomes Browser:
rs190463258
Molecular consequence:
  • NM_015378.4:c.1414+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_018156.4:c.1414+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
Synonyms:
SPINOCEREBELLAR ATAXIA 24; Spinocerebellar ataxia autosomal recessive 4; Spinocerebellar ataxia 24 (formerly)
Identifiers:
MONDO: MONDO:0011811; MedGen: C1846492; Orphanet: 95434; OMIM: 607317

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003834875Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Jan 4, 2021)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Baylor Genetics, SCV003834875.1

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

Last Updated: Feb 20, 2024