17-44194360-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001382309.1(ATXN7L3):c.947G>A(p.Ser316Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000657 in 1,614,228 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001382309.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ATXN7L3 | NM_001382309.1 | c.947G>A | p.Ser316Asn | missense_variant | Exon 13 of 13 | ENST00000587097.6 | NP_001369238.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 152246Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000764 AC: 19AN: 248574Hom.: 0 AF XY: 0.0000371 AC XY: 5AN XY: 134938
GnomAD4 exome AF: 0.0000534 AC: 78AN: 1461864Hom.: 0 Cov.: 32 AF XY: 0.0000413 AC XY: 30AN XY: 727236
GnomAD4 genome AF: 0.000184 AC: 28AN: 152364Hom.: 0 Cov.: 32 AF XY: 0.000174 AC XY: 13AN XY: 74506
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.968G>A (p.S323N) alteration is located in exon 12 (coding exon 12) of the ATXN7L3 gene. This alteration results from a G to A substitution at nucleotide position 968, causing the serine (S) at amino acid position 323 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at