chr20-34882856-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_018677.4(ACSS2):c.241C>T(p.Arg81Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000115 in 1,613,496 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R81Q) has been classified as Likely benign.
Frequency
Consequence
NM_018677.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACSS2 | NM_018677.4 | c.241C>T | p.Arg81Trp | missense_variant | 2/18 | ENST00000360596.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACSS2 | ENST00000360596.7 | c.241C>T | p.Arg81Trp | missense_variant | 2/18 | 1 | NM_018677.4 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.000105 AC: 16AN: 152132Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000128 AC: 32AN: 250738Hom.: 0 AF XY: 0.000140 AC XY: 19AN XY: 135494
GnomAD4 exome AF: 0.000116 AC: 169AN: 1461364Hom.: 0 Cov.: 30 AF XY: 0.000113 AC XY: 82AN XY: 726930
GnomAD4 genome ? AF: 0.000105 AC: 16AN: 152132Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 13, 2021 | The c.241C>T (p.R81W) alteration is located in exon 2 (coding exon 2) of the ACSS2 gene. This alteration results from a C to T substitution at nucleotide position 241, causing the arginine (R) at amino acid position 81 to be replaced by a tryptophan (W). 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