12-111598978-T-TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP3
The NM_001372574.1(ATXN2):c.56_57insGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA(p.Gln19_Gln20insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) variant causes a disruptive inframe insertion change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. Q19Q) has been classified as Benign.
Frequency
Consequence
NM_001372574.1 disruptive_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ATXN2 | NM_001372574.1 | c.56_57insGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA | p.Gln19_Gln20insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln | disruptive_inframe_insertion | Exon 1 of 25 | ENST00000673436.1 | NP_001359503.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ATXN2 | ENST00000673436.1 | c.56_57insGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA | p.Gln19_Gln20insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln | disruptive_inframe_insertion | Exon 1 of 25 | NM_001372574.1 | ENSP00000500925.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 74
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Spinocerebellar ataxia type 2 Uncertain:1
The variant is not observed in the gnomAD v2.1.1 dataset. Predicted consequence - Inframe insertion variant (CAG repeat expansion). The variant has been reported to be associated with ATXN2-related disorder (ClinVar ID: VCV000065668). Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.