7-69599726-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015570.4(AUTS2):c.73C>T(p.Arg25Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000171 in 1,172,330 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_015570.4 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 |
---|---|---|---|---|---|---|---|---|
AUTS2 | NM_015570.4 | c.73C>T | p.Arg25Cys | missense_variant | 1/19 | ENST00000342771.10 | NP_056385.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AUTS2 | ENST00000342771.10 | c.73C>T | p.Arg25Cys | missense_variant | 1/19 | 1 | NM_015570.4 | ENSP00000344087.4 | ||
AUTS2 | ENST00000406775.6 | c.73C>T | p.Arg25Cys | missense_variant | 1/18 | 1 | ENSP00000385263.2 | |||
AUTS2 | ENST00000403018.3 | c.73C>T | p.Arg25Cys | missense_variant | 1/5 | 1 | ENSP00000385572.2 | |||
AUTS2 | ENST00000644939.1 | c.73C>T | p.Arg25Cys | missense_variant | 1/19 | ENSP00000496726.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000171 AC: 2AN: 1172330Hom.: 0 Cov.: 32 AF XY: 0.00000353 AC XY: 2AN XY: 566862
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | GeneDx | Aug 08, 2024 | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.