chr7-69599759-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015570.4(AUTS2):c.106G>C(p.Gly36Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000146 in 1,369,464 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 (★). Synonymous variant affecting the same amino acid position (i.e. G36G) has been classified as Likely benign.
Frequency
Consequence
NM_015570.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AUTS2 | NM_015570.4 | c.106G>C | p.Gly36Arg | missense_variant | 1/19 | ENST00000342771.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AUTS2 | ENST00000342771.10 | c.106G>C | p.Gly36Arg | missense_variant | 1/19 | 1 | NM_015570.4 | P4 | |
AUTS2 | ENST00000406775.6 | c.106G>C | p.Gly36Arg | missense_variant | 1/18 | 1 | |||
AUTS2 | ENST00000403018.3 | c.106G>C | p.Gly36Arg | missense_variant | 1/5 | 1 | |||
AUTS2 | ENST00000644939.1 | c.106G>C | p.Gly36Arg | missense_variant | 1/19 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000660 AC: 1AN: 151546Hom.: 0 Cov.: 32
GnomAD4 exome AF: 8.21e-7 AC: 1AN: 1217918Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 594320
GnomAD4 genome ? AF: 0.00000660 AC: 1AN: 151546Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74016
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 29, 2023 | The c.106G>C (p.G36R) alteration is located in exon 1 (coding exon 1) of the AUTS2 gene. This alteration results from a G to C substitution at nucleotide position 106, causing the glycine (G) at amino acid position 36 to be replaced by an arginine (R). 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