NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) AND Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 12, 2006
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000002382.6

Allele description [Variation Report for NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg)]

NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg)

Gene:

SETX:senataxin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

Preferred name:

NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg)

HGVS:

NC_000009.12:g.132296909A>C
NG_007946.1:g.63077T>G
NM_001351527.2:c.5927T>G
NM_001351528.2:c.5927T>G
NM_015046.7:c.5927T>GMANE SELECT
NP_001338456.1:p.Leu1976Arg
NP_001338457.1:p.Leu1976Arg
NP_055861.3:p.Leu1976Arg
NP_055861.3:p.Leu1976Arg
LRG_268t1:c.5927T>G
LRG_268:g.63077T>G
LRG_268p1:p.Leu1976Arg
NC_000009.11:g.135172296A>C
NM_015046.5:c.5927T>G
NM_015046.5:c.5927T>G
NM_015046.6:c.5927T>G
Q7Z333:p.Leu1976Arg

Protein change:

L1976R; LEU1976ARG

Links:

UniProtKB: Q7Z333#VAR_072588; OMIM: 608465.0009; dbSNP: rs121434379

NCBI 1000 Genomes Browser:

rs121434379

Molecular consequence:

NM_001351527.2:c.5927T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001351528.2:c.5927T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_015046.7:c.5927T>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000022540	OMIM	no assertion criteria provided	Pathogenic (Dec 12, 2006)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 15732101, 17159128
SCV002588717	GeneReviews	no classification provided	not provided	germline	literature only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000022540

OMIM

no assertion criteria provided

Pathogenic
(Dec 12, 2006)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV002588717

GeneReviews

no classification provided

not provided

germline

literature only

Help

Summary from all submissions

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

Citations

PubMed

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.

Duquette A, Roddier K, McNabb-Baltar J, Gosselin I, St-Denis A, Dicaire MJ, Loisel L, Labuda D, Marchand L, Mathieu J, Bouchard JP, Brais B.

Ann Neurol. 2005 Mar;57(3):408-14.

PubMed [citation]

PMID:: 15732101

Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.

Fogel BL, Perlman S.

Neurology. 2006 Dec 12;67(11):2083-4. No abstract available.

PubMed [citation]

PMID:: 17159128

Details of each submission

From OMIM, SCV000022540.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In affected members of 7 unrelated French Canadian families with autosomal recessive spinocerebellar ataxia with axonal neuropathy-2 (SCAN2; 606002), Duquette et al. (2005) identified a homozygous 5927T-G transversion in the SETX gene, resulting in a leu1976-to-arg (L1976R) substitution in the helicase domain of the protein. Affected members from 3 additional families had the L1986R mutation in compound heterozygosity with another disease-causing SETX mutation. The carrier rate for the L1986R mutation was estimated at 3.5% for Quebecois of Anglo-Norman descent and 2.1% in the French Canadian population of Gaspesie. All patients had a similar phenotype characterized by progressive ataxia, distal amyotrophy, and sensory impairment, but without oculomotor apraxia as strictly defined.

In a patient with SCAN2, Fogel and Perlman (2006) identified compound heterozygosity for 2 mutations in the SETX gene: L1976R and L1977F (608465.0012).

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

From GeneReviews, SCV002588717.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	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: Mar 16, 2024

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