Table 6.

Notable ATXN10 Pathogenic Variants

Reference
Sequences		Variant
Classification		DNA Nucleotide ChangePredicted
Protein
Change		Comment [Reference]
NM_013236​.2
NP_037368​.1 		Benign c.1430+54822_54826ATTCT(10_32) 1, 2
(10 to 32 ATTCT repeats)		None[Matsuura et al 2000, Matsuura et al 2006]
Pathogenic c.1430+54822_54826ATTCT(280) 3NoneMay be alleles w/reduced or no penetrance [Alonso et al 2006, Matsuura et al 2006, Raskin et al 2007]
c.1430+54822_54826ATTCT(360_370
(360 to 370 ATTCT repeats)		None
c.1430+54822_54826ATTCT(400_760)
(400 to 760 ATTCT repeats)		None
c.1430+54822_54826ATTCT(850)
(850 ATTCT repeats)		None
c.1430+54822_54826ATTCT(800_4500) 4
(800 to 4500 ATTCT repeats)		NoneAlleles w/full penetrance. The lower end of the fully penetrant allele range of 800 is not well defined; overlap w/reduced-penetrance alleles exists [Matsuura et al 2000].

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Sequence analysis of ATXN10 alleles ranging from 11 to 16 repeats showed tandem ATTCT repeats without interruptions [Matsuura et al 2000].

2.

About 70% of large normal alleles (≥17 repeats), which comprise about 7% of normal alleles, have ATTGT-TTTCT or TTTCT interruptions at the second-to-last repeat [Matsuura et al 2006].

3.

The sequence of one allele of 280 ATTCT repeats with apparent reduced penetrance showed a complex pattern of interruptions, including multiple repetitive ATGCT repeats at the 5' end of the expansion and ATTCTAT septanucleotide repeats at the 3' end.

4.

Limited sequencing of fully expanded ATTCT repeat alleles showed interruptions by multiple ATTTTCTs and ATATTCTs or uninterrupted ATTCTs, depending on the family from which the mutated allele was obtained [Matsuura et al 2006].

From: Spinocerebellar Ataxia Type 10

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