13-70139247-T-C
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NR_002717.3(ATXN8OS):n.758T>C variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000373 in 456,054 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NR_002717.3 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ATXN8OS | ENST00000414504.6 | n.966T>C | non_coding_transcript_exon_variant | Exon 5 of 5 | 5 | |||||
ENSG00000288330 | ENST00000673087.1 | n.185A>G | non_coding_transcript_exon_variant | Exon 1 of 1 | ||||||
ATXN8OS | ENST00000660386.1 | n.451-8108T>C | intron_variant | Intron 3 of 3 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152018Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.0000395 AC: 12AN: 304036Hom.: 0 Cov.: 0 AF XY: 0.0000446 AC XY: 7AN XY: 157122
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152018Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74240
ClinVar
Submissions by phenotype
ATXN8OS-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at