chr11-67647021-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The NM_080658.2(ACY3):c.23G>A(p.Arg8Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.809 in 1,541,728 control chromosomes in the GnomAD database, including 511,217 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R8W) has been classified as Uncertain significance.
Frequency
Consequence
NM_080658.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACY3 | NM_080658.2 | c.23G>A | p.Arg8Gln | missense_variant | 3/8 | ENST00000255082.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACY3 | ENST00000255082.8 | c.23G>A | p.Arg8Gln | missense_variant | 3/8 | 1 | NM_080658.2 | P1 | |
ACY3 | ENST00000529256.1 | c.-245-96G>A | intron_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.725 AC: 110190AN: 152030Hom.: 42391 Cov.: 33
GnomAD3 exomes AF: 0.829 AC: 127240AN: 153444Hom.: 53626 AF XY: 0.839 AC XY: 68891AN XY: 82074
GnomAD4 exome AF: 0.818 AC: 1137155AN: 1389580Hom.: 468812 Cov.: 62 AF XY: 0.822 AC XY: 562306AN XY: 683782
GnomAD4 genome AF: 0.725 AC: 110244AN: 152148Hom.: 42405 Cov.: 33 AF XY: 0.732 AC XY: 54483AN XY: 74396
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at