3-63912764-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001377405.1(ATXN7):c.166C>T(p.Arg56Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000368 in 1,358,088 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001377405.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ATXN7 | NM_001377405.1 | c.166C>T | p.Arg56Trp | missense_variant | 3/13 | ENST00000674280.1 | NP_001364334.1 | |
ATXN7 | NM_001177387.1 | c.166C>T | p.Arg56Trp | missense_variant | 2/13 | NP_001170858.1 | ||
ATXN7 | NM_000333.4 | c.166C>T | p.Arg56Trp | missense_variant | 3/13 | NP_000324.1 | ||
ATXN7 | NM_001377406.1 | c.166C>T | p.Arg56Trp | missense_variant | 2/12 | NP_001364335.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000133 AC: 2AN: 150418Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000248 AC: 3AN: 1207670Hom.: 0 Cov.: 33 AF XY: 0.00000339 AC XY: 2AN XY: 589188
GnomAD4 genome AF: 0.0000133 AC: 2AN: 150418Hom.: 0 Cov.: 31 AF XY: 0.0000136 AC XY: 1AN XY: 73350
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 26, 2024 | The c.166C>T (p.R56W) alteration is located in exon 2 (coding exon 1) of the ATXN7 gene. This alteration results from a C to T substitution at nucleotide position 166, causing the arginine (R) at amino acid position 56 to be replaced by a tryptophan (W). 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