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NM_033305.3(VPS13A):c.7155+14dup AND Chorea-acanthocytosis

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jun 14, 2016
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:
RCV000346672.7

Allele description [Variation Report for NM_033305.3(VPS13A):c.7155+14dup]

NM_033305.3(VPS13A):c.7155+14dup

Gene:
VPS13A:vacuolar protein sorting 13 homolog A [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9q21.2
Genomic location:
Preferred name:
NM_033305.3(VPS13A):c.7155+14dup
HGVS:
  • NC_000009.12:g.77344295dup
  • NG_008931.1:g.171851dup
  • NM_001018037.2:c.7038+14dup
  • NM_001018038.3:c.7155+14dup
  • NM_015186.4:c.7155+14dup
  • NM_033305.3:c.7155+14dupMANE SELECT
  • NC_000009.11:g.79959202_79959203insT
  • NC_000009.11:g.79959211dup
  • NM_033305.2:c.7155+14dupT
Links:
dbSNP: rs747383490
NCBI 1000 Genomes Browser:
rs747383490
Molecular consequence:
  • NM_001018037.2:c.7038+14dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001018038.3:c.7155+14dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_015186.4:c.7155+14dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_033305.3:c.7155+14dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Chorea-acanthocytosis
Synonyms:
Choreoacanthocytosis; Acanthocytosis with neurologic disorder; Levine-Critchley syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008695; MedGen: C0393576; Orphanet: 2388; OMIM: 200150

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000480803Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV002078276Natera, Inc.
no assertion criteria provided
Benign
(Sep 27, 2019) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000480803.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV002078276.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024