rs2229152
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_000666.3(ACY1):c.1156C>T(p.Arg386Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00129 in 1,614,126 control chromosomes in the GnomAD database, including 12 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R386H) has been classified as Uncertain significance.
Frequency
Consequence
NM_000666.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACY1 | NM_000666.3 | c.1156C>T | p.Arg386Cys | missense_variant | 15/15 | ENST00000636358.2 | |
ABHD14A-ACY1 | NM_001316331.2 | c.1426C>T | p.Arg476Cys | missense_variant | 17/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACY1 | ENST00000636358.2 | c.1156C>T | p.Arg386Cys | missense_variant | 15/15 | 1 | NM_000666.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00494 AC: 751AN: 152146Hom.: 6 Cov.: 32
GnomAD3 exomes AF: 0.00148 AC: 373AN: 251320Hom.: 2 AF XY: 0.00112 AC XY: 152AN XY: 135840
GnomAD4 exome AF: 0.000906 AC: 1324AN: 1461862Hom.: 6 Cov.: 32 AF XY: 0.000818 AC XY: 595AN XY: 727236
GnomAD4 genome ? AF: 0.00495 AC: 753AN: 152264Hom.: 6 Cov.: 32 AF XY: 0.00514 AC XY: 383AN XY: 74444
ClinVar
Submissions by phenotype
Aminoacylase 1 deficiency Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Mendelics | May 28, 2019 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 24, 2024 | - - |
ACY1-related condition Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Feb 02, 2022 | 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). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at