GeneBe

rs193922930

Positions:

Variant summary

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

The ENST00000414504.6(ATXN8OS):​n.1110_1148delTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC variant causes a splice region, 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: not found (cov: 0)

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

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
ATXN8OSNR_002717.3 linkuse as main transcriptn.902_940delTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC non_coding_transcript_exon_variant 5/5
ATXN8OSNR_185834.1 linkuse as main transcriptn.454-7964_454-7926delTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC intron_variant
ATXN8OSNR_185835.1 linkuse as main transcriptn.454-7964_454-7926delTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC intron_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
ATXN8OSENST00000414504.6 linkuse as main transcriptn.1110_1148delTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC splice_region_variant, non_coding_transcript_exon_variant 5/55
ENSG00000288330ENST00000673087.1 linkuse as main transcriptn.10_48delCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG non_coding_transcript_exon_variant 1/1
ATXN8OSENST00000660386.1 linkuse as main transcriptn.451-7964_451-7926delTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC intron_variant

Frequencies

GnomAD3 genomes
Cov.:
0
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
Cov.:
0

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