X-23721954-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001037171.2(ACOT9):āc.515A>Gā(p.Gln172Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000182 in 1,096,363 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001037171.2 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 | UniProt |
---|---|---|---|---|---|---|---|
ACOT9 | NM_001037171.2 | c.515A>G | p.Gln172Arg | missense_variant | 8/16 | ENST00000379303.10 | |
ACOT9 | NM_001033583.3 | c.488A>G | p.Gln163Arg | missense_variant | 7/15 | ||
ACOT9 | NM_001330259.2 | c.308A>G | p.Gln103Arg | missense_variant | 6/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACOT9 | ENST00000379303.10 | c.515A>G | p.Gln172Arg | missense_variant | 8/16 | 1 | NM_001037171.2 | A2 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD3 exomes AF: 0.00000554 AC: 1AN: 180545Hom.: 0 AF XY: 0.0000154 AC XY: 1AN XY: 65067
GnomAD4 exome AF: 0.00000182 AC: 2AN: 1096363Hom.: 0 Cov.: 28 AF XY: 0.00000276 AC XY: 1AN XY: 361769
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 16, 2022 | The c.515A>G (p.Q172R) alteration is located in exon 8 (coding exon 8) of the ACOT9 gene. This alteration results from a A to G substitution at nucleotide position 515, causing the glutamine (Q) at amino acid position 172 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