17-44194600-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001382309.1(ATXN7L3):c.812G>A(p.Arg271Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000211 in 1,613,908 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 Uncertain significance (★).
Frequency
Consequence
NM_001382309.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ATXN7L3 | NM_001382309.1 | c.812G>A | p.Arg271Gln | missense_variant | Exon 12 of 13 | ENST00000587097.6 | NP_001369238.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152130Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000241 AC: 6AN: 249088Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135174
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1461660Hom.: 0 Cov.: 32 AF XY: 0.0000206 AC XY: 15AN XY: 727122
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152248Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74456
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.833G>A (p.R278Q) alteration is located in exon 11 (coding exon 11) of the ATXN7L3 gene. This alteration results from a G to A substitution at nucleotide position 833, causing the arginine (R) at amino acid position 278 to be replaced by a glutamine (Q). 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