13-70139383-ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG-ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG

Position:

• chr13-70139383-ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG-ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NR_002717.3(ATXN8OS):​n.920_940dupTGCTGCTGCTGCTGCTGCTGC variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.00091 (1 hom., cov: 0)
  • Exomes 𝑓: 0.00052 (7 hom.)
  • Failed GnomAD Quality Control
• Consequence: ATXN8OS NR_002717.3 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.36

Genes affected

ENSG00000288330 (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
ATXN8OS	NR_002717.3	n.920_940dupTGCTGCTGCTGCTGCTGCTGC		non_coding_transcript_exon_variant	5/5
ATXN8OS	NR_185834.1	n.454-7946_454-7926dupTGCTGCTGCTGCTGCTGCTGC		intron_variant
ATXN8OS	NR_185835.1	n.454-7946_454-7926dupTGCTGCTGCTGCTGCTGCTGC		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ENSG00000288330	ENST00000673087.1	n.28_48dupCAGCAGCAGCAGCAGCAGCAG		non_coding_transcript_exon_variant	1/1
ATXN8OS	ENST00000660386.1	n.451-7946_451-7926dupTGCTGCTGCTGCTGCTGCTGC		intron_variant
ATXN8OS	ENST00000677785.1	n.393-7946_393-7926dupTGCTGCTGCTGCTGCTGCTGC		intron_variant
ATXN8OS	ENST00000678624.1	n.500-7946_500-7926dupTGCTGCTGCTGCTGCTGCTGC		intron_variant

Frequencies

GnomAD3 genomes AF: 0.000907 AC: 99 AN: 109110 Hom.: 1 Cov.: 0

Gnomad AFR AF: 0.00284

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00100

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00160

Gnomad SAS AF: 0.000552

Gnomad FIN AF: 0.000153

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.000165

Gnomad OTH AF: 0.000710

GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000524 AC: 183 AN: 349186 Hom.: 7 Cov.: 0 AF XY: 0.000505 AC XY: 94 AN XY: 186194

Gnomad4 AFR exome AF: 0.00177

Gnomad4 AMR exome AF: 0.00118

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.00323

Gnomad4 SAS exome AF: 0.000408

Gnomad4 FIN exome AF: 0.0000471

Gnomad4 NFE exome AF: 0.000157

Gnomad4 OTH exome AF: 0.00106

GnomAD4 genome AF: 0.000907 AC: 99 AN: 109140 Hom.: 1 Cov.: 0 AF XY: 0.000835 AC XY: 44 AN XY: 52666

Gnomad4 AFR AF: 0.00283

Gnomad4 AMR AF: 0.00100

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00161

Gnomad4 SAS AF: 0.000554

Gnomad4 FIN AF: 0.000153

Gnomad4 NFE AF: 0.000165

Gnomad4 OTH AF: 0.000706

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs193922930; hg19: chr13-70713515;