rs25683
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_005891.3(ACAT2):āc.632A>Gā(p.Lys211Arg) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.543 in 1,613,274 control chromosomes in the GnomAD database, including 246,688 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in Lovd as Benign (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_005891.3 missense, splice_region
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 |
---|---|---|---|---|---|---|---|
ACAT2 | NM_005891.3 | c.632A>G | p.Lys211Arg | missense_variant, splice_region_variant | 5/9 | ENST00000367048.5 | |
ACAT2 | NM_001303253.1 | c.719A>G | p.Lys240Arg | missense_variant, splice_region_variant | 5/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACAT2 | ENST00000367048.5 | c.632A>G | p.Lys211Arg | missense_variant, splice_region_variant | 5/9 | 1 | NM_005891.3 | P1 | |
ACAT2 | ENST00000472052.1 | n.26A>G | non_coding_transcript_exon_variant | 1/4 | 2 | ||||
ACAT2 | ENST00000467951.1 | downstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.458 AC: 69592AN: 151968Hom.: 18094 Cov.: 32
GnomAD3 exomes AF: 0.522 AC: 131212AN: 251198Hom.: 36777 AF XY: 0.524 AC XY: 71213AN XY: 135776
GnomAD4 exome AF: 0.552 AC: 806837AN: 1461186Hom.: 228587 Cov.: 42 AF XY: 0.550 AC XY: 399827AN XY: 726912
GnomAD4 genome ? AF: 0.458 AC: 69593AN: 152088Hom.: 18101 Cov.: 32 AF XY: 0.456 AC XY: 33915AN XY: 74336
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at