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NM_001195248.2(APTX):c.771-20dup AND Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Germline classification:
Benign (1 submission)
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:
RCV001844082.10

Allele description [Variation Report for NM_001195248.2(APTX):c.771-20dup]

NM_001195248.2(APTX):c.771-20dup

Gene:
APTX:aprataxin [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
9p21.1
Genomic location:
Preferred name:
NM_001195248.2(APTX):c.771-20dup
HGVS:
  • NC_000009.12:g.32974581dup
  • NG_012821.2:g.55559dup
  • NM_001195248.2:c.771-12dupMANE SELECT
  • NM_001195248.2:c.771-20dupMANE SELECT
  • NM_001195249.2:c.771-12dup
  • NM_001195250.2:c.609-12dup
  • NM_001195251.2:c.771-12dup
  • NM_001195252.2:c.555-12dup
  • NM_001195254.2:c.609-12dup
  • NM_001368995.1:c.771-12dup
  • NM_001368996.1:c.771-12dup
  • NM_001368997.1:c.771-12dup
  • NM_001368998.1:c.771-12dup
  • NM_001368999.1:c.771-12dup
  • NM_001369000.1:c.609-12dup
  • NM_001369001.1:c.609-12dup
  • NM_001369002.1:c.507-12dup
  • NM_001369003.1:c.507-12dup
  • NM_001369004.1:c.507-12dup
  • NM_001369005.1:c.507-12dup
  • NM_001369006.1:c.507-12dup
  • NM_001370669.1:c.507-12dup
  • NM_001370670.1:c.507-12dup
  • NM_001370673.1:c.507-12dup
  • NM_175069.3:c.771-12dup
  • NM_175073.3:c.771-12dup
  • NC_000009.11:g.32974579dup
  • NC_000009.12:g.32974581dup
  • NM_175073.2:c.771-12dupT
Links:
dbSNP: rs34600530
NCBI 1000 Genomes Browser:
rs34600530
Molecular consequence:
  • NM_001195248.2:c.771-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195248.2:c.771-20dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195249.2:c.771-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195250.2:c.609-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195251.2:c.771-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195252.2:c.555-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195254.2:c.609-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368995.1:c.771-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368996.1:c.771-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368997.1:c.771-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368998.1:c.771-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001368999.1:c.771-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369000.1:c.609-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369001.1:c.609-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369002.1:c.507-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369003.1:c.507-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369004.1:c.507-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369005.1:c.507-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369006.1:c.507-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370669.1:c.507-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370670.1:c.507-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001370673.1:c.507-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_175069.3:c.771-12dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_175073.3:c.771-12dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2)
Synonyms:
Ataxia-oculomotor apraxia 2; Ataxia-ocular apraxia-2; Ataxia with Oculomotor Apraxia
Identifiers:
MONDO: MONDO:0018996; MedGen: C1853761; Orphanet: 64753; OMIM: 606002

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000479621Illumina Laboratory Services, Illumina
criteria provided, single submitter

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

ICSL_Variant_Classification_20161018.pdf

Citation Link

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, SCV000479621.3

#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: Nov 3, 2024