11-67645094-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_080658.2(ACY3):c.585G>A(p.Met195Ile) variant causes a missense change. The variant allele was found at a frequency of 0.00000889 in 1,461,512 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_080658.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ACY3 | NM_080658.2 | c.585G>A | p.Met195Ile | missense_variant | Exon 6 of 8 | ENST00000255082.8 | NP_542389.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251114Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135726
GnomAD4 exome AF: 0.00000889 AC: 13AN: 1461512Hom.: 0 Cov.: 33 AF XY: 0.00000550 AC XY: 4AN XY: 727076
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.585G>A (p.M195I) alteration is located in exon 6 (coding exon 4) of the ACY3 gene. This alteration results from a G to A substitution at nucleotide position 585, causing the methionine (M) at amino acid position 195 to be replaced by an isoleucine (I). 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