13-70139383-ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG-ACTGCTGCTGCTG

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2

The ENST00000414504.6(ATXN8OS):​n.1122_1148delTGCTGCTGCTGCTGCTGCTGCTGCTGC variant causes a splice region, non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000118 in 458,318 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.000082 ( 0 hom., cov: 0)
Exomes 𝑓: 0.00013 ( 0 hom. )

Consequence

ATXN8OS
ENST00000414504.6 splice_region, non_coding_transcript_exon

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.190
Variant links:
Genes affected
ATXN8OS (HGNC:10561): (ATXN8 opposite strand lncRNA) This gene is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A TAC/TGC trinucleotide repeat expansion that is incorporated into this gene transcript, but not the KLHL1 transcript, causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript. [provided by RefSeq, Oct 2008]

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ACMG classification

Classification made for transcript

Verdict is Likely_benign. Variant got -4 ACMG points.

BS2
High AC in GnomAd4 at 9 AD gene.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
ATXN8OSNR_002717.3 linkn.914_940delTGCTGCTGCTGCTGCTGCTGCTGCTGC non_coding_transcript_exon_variant 5/5
ATXN8OSNR_185834.1 linkn.454-7952_454-7926delTGCTGCTGCTGCTGCTGCTGCTGCTGC intron_variant
ATXN8OSNR_185835.1 linkn.454-7952_454-7926delTGCTGCTGCTGCTGCTGCTGCTGCTGC intron_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
ATXN8OSENST00000414504.6 linkn.1122_1148delTGCTGCTGCTGCTGCTGCTGCTGCTGC splice_region_variant, non_coding_transcript_exon_variant 5/55
ENSG00000288330ENST00000673087.1 linkn.22_48delCAGCAGCAGCAGCAGCAGCAGCAGCAG non_coding_transcript_exon_variant 1/1
ATXN8OSENST00000660386.1 linkn.451-7952_451-7926delTGCTGCTGCTGCTGCTGCTGCTGCTGC intron_variant

Frequencies

GnomAD3 genomes
AF:
0.0000825
AC:
9
AN:
109116
Hom.:
0
Cov.:
0
show subpopulations
Gnomad AFR
AF:
0.0000411
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.00
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.00
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.000146
Gnomad OTH
AF:
0.00
GnomAD4 exome
AF:
0.000129
AC:
45
AN:
349202
Hom.:
0
AF XY:
0.000124
AC XY:
23
AN XY:
186198
show subpopulations
Gnomad4 AFR exome
AF:
0.000126
Gnomad4 AMR exome
AF:
0.00
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.00
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.000190
Gnomad4 OTH exome
AF:
0.000151
GnomAD4 genome
AF:
0.0000825
AC:
9
AN:
109116
Hom.:
0
Cov.:
0
AF XY:
0.0000570
AC XY:
3
AN XY:
52594
show subpopulations
Gnomad4 AFR
AF:
0.0000411
Gnomad4 AMR
AF:
0.00
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.00
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.000146
Gnomad4 OTH
AF:
0.00

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs193922930; hg19: chr13-70713515; API