rs767529359
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_ModerateBP6BS1BS2
The NM_015570.4(AUTS2):c.1295C>A(p.Pro432His) variant causes a missense change. The variant allele was found at a frequency of 0.000137 in 1,346,850 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_015570.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AUTS2 | NM_015570.4 | c.1295C>A | p.Pro432His | missense_variant | Exon 8 of 19 | ENST00000342771.10 | NP_056385.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000360 AC: 53AN: 147226Hom.: 0 Cov.: 22
GnomAD3 exomes AF: 0.000212 AC: 36AN: 170110Hom.: 0 AF XY: 0.000221 AC XY: 20AN XY: 90474
GnomAD4 exome AF: 0.000110 AC: 132AN: 1199624Hom.: 4 Cov.: 19 AF XY: 0.000101 AC XY: 61AN XY: 601326
GnomAD4 genome AF: 0.000360 AC: 53AN: 147226Hom.: 0 Cov.: 22 AF XY: 0.000433 AC XY: 31AN XY: 71606
ClinVar
Submissions by phenotype
not provided Uncertain:1Benign:1
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AUTS2-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Autism spectrum disorder due to AUTS2 deficiency Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at