Variant 13-70139383-ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG-ACTGCTGCTG details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The ENST00000414504.6(ATXN8OS):n.1119_1148delTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC 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 0.0000305 in 458,352 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 0.000046 ( 0 hom., cov: 0)

Exomes 𝑓: 0.000026 ( 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:):

ATXN8OS links:

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 2 ACMG points.

PM2

Very rare variant in population databases, with high coverage;

Transcripts

RefSeq

Gene	Transcript	HGVSc	Effect	#exon/exons
ATXN8OS	NR_002717.3 linkuse as main transcript	n.911_940delTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	non_coding_transcript_exon_variant	5/5
ATXN8OS	NR_185834.1 linkuse as main transcript	n.454-7955_454-7926delTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	intron_variant
ATXN8OS	NR_185835.1 linkuse as main transcript	n.454-7955_454-7926delTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	intron_variant

Ensembl

Gene	Transcript	HGVSc	Effect	#exon/exons	TSL
ATXN8OS	ENST00000414504.6 linkuse as main transcript	n.1119_1148delTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	splice_region_variant, non_coding_transcript_exon_variant	5/5	5
ENSG00000288330	ENST00000673087.1 linkuse as main transcript	n.19_48delCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	non_coding_transcript_exon_variant	1/1
ATXN8OS	ENST00000660386.1 linkuse as main transcript	n.451-7955_451-7926delTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	intron_variant

Frequencies

GnomAD3 genomes

AF:

0.0000458

AC:

AN:

109116

Hom.:

Cov.:

show subpopulations

Gnomad AFR

AF:

0.000123

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:

0.0000366

Gnomad OTH

AF:

0.00

GnomAD4 exome

AF:

0.0000258

AC:

AN:

349206

Hom.:

AF XY:

0.0000107

AC XY:

AN XY:

186204

show subpopulations

Gnomad4 AFR exome

AF:

0.00

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:

0.0000471

Gnomad4 NFE exome

AF:

0.0000231

Gnomad4 OTH exome

AF:

0.000151

GnomAD4 genome

AF:

0.0000458

AC:

AN:

109146

Hom.:

Cov.:

AF XY:

0.0000380

AC XY:

AN XY:

52666

show subpopulations

Gnomad4 AFR

AF:

0.000123

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:

0.0000366

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.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Computational scores

Splicing

Publications

LitVar

Other links and lift over