rs1053338
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_001377405.1(ATXN7):āc.791A>Gā(p.Lys264Arg) variant causes a missense change. The variant allele was found at a frequency of 0.132 in 1,613,974 control chromosomes in the GnomAD database, including 14,812 homozygotes. 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 Likely benign (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001377405.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ATXN7 | NM_001377405.1 | c.791A>G | p.Lys264Arg | missense_variant | 7/13 | ENST00000674280.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ATXN7 | ENST00000674280.1 | c.791A>G | p.Lys264Arg | missense_variant | 7/13 | NM_001377405.1 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.106 AC: 16077AN: 151992Hom.: 1054 Cov.: 32
GnomAD3 exomes AF: 0.137 AC: 34194AN: 249424Hom.: 2613 AF XY: 0.137 AC XY: 18585AN XY: 135332
GnomAD4 exome AF: 0.135 AC: 197604AN: 1461866Hom.: 13757 Cov.: 33 AF XY: 0.135 AC XY: 98208AN XY: 727234
GnomAD4 genome ? AF: 0.106 AC: 16079AN: 152108Hom.: 1055 Cov.: 32 AF XY: 0.104 AC XY: 7739AN XY: 74352
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, no assertion criteria provided | clinical testing | Genetic Services Laboratory, University of Chicago | - | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at