NM_001195248.2(APTX):c.484-12_484-11insG AND Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Germline classification:: Likely 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:: RCV001844150.11

Allele description [Variation Report for NM_001195248.2(APTX):c.484-12_484-11insG]

NM_001195248.2(APTX):c.484-12_484-11insG

Gene:

APTX:aprataxin [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

9p21.1

Genomic location:

Preferred name:

NM_001195248.2(APTX):c.484-12_484-11insG

HGVS:

NC_000009.12:g.32986041_32986042insC
NG_012821.2:g.44090_44091insG
NM_001195248.2:c.484-12_484-11insGMANE SELECT
NM_001195249.2:c.484-12_484-11insG
NM_001195250.2:c.322-12_322-11insG
NM_001195251.2:c.484-12_484-11insG
NM_001195252.2:c.268-12_268-11insG
NM_001195254.2:c.322-12_322-11insG
NM_001368995.1:c.484-12_484-11insG
NM_001368996.1:c.484-12_484-11insG
NM_001368997.1:c.484-12_484-11insG
NM_001368998.1:c.484-12_484-11insG
NM_001368999.1:c.484-12_484-11insG
NM_001369000.1:c.322-12_322-11insG
NM_001369001.1:c.322-12_322-11insG
NM_001369002.1:c.220-12_220-11insG
NM_001369003.1:c.220-12_220-11insG
NM_001369004.1:c.220-12_220-11insG
NM_001369005.1:c.220-12_220-11insG
NM_001369006.1:c.220-12_220-11insG
NM_001370669.1:c.220-12_220-11insG
NM_001370670.1:c.220-12_220-11insG
NM_001370673.1:c.220-12_220-11insG
NM_175069.3:c.484-12_484-11insG
NM_175073.3:c.484-12_484-11insG
NC_000009.11:g.32986039_32986040insC
NM_175073.2:c.484-12_484-11insG

Links:

dbSNP: rs377129152

NCBI 1000 Genomes Browser:

rs377129152

Molecular consequence:

NM_001195248.2:c.484-12_484-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001195249.2:c.484-12_484-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001195250.2:c.322-12_322-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001195251.2:c.484-12_484-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001195252.2:c.268-12_268-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001195254.2:c.322-12_322-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001368995.1:c.484-12_484-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001368996.1:c.484-12_484-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001368997.1:c.484-12_484-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001368998.1:c.484-12_484-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001368999.1:c.484-12_484-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001369000.1:c.322-12_322-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001369001.1:c.322-12_322-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001369002.1:c.220-12_220-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001369003.1:c.220-12_220-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001369004.1:c.220-12_220-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001369005.1:c.220-12_220-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001369006.1:c.220-12_220-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001370669.1:c.220-12_220-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001370670.1:c.220-12_220-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_001370673.1:c.220-12_220-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_175069.3:c.484-12_484-11insG - intron variant - [Sequence Ontology: SO:0001627]
NM_175073.3:c.484-12_484-11insG - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000479630	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Likely benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000479630

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Likely benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000479630.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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