rs11549081
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_023928.5(AACS):āc.352A>Gā(p.Ile118Val) variant causes a missense change. The variant allele was found at a frequency of 0.149 in 1,613,700 control chromosomes in the GnomAD database, including 19,958 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict 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.
Frequency
Consequence
NM_023928.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AACS | NM_023928.5 | c.352A>G | p.Ile118Val | missense_variant | 3/18 | ENST00000316519.11 | |
LOC105370052 | XR_001749365.2 | n.194+4885T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AACS | ENST00000316519.11 | c.352A>G | p.Ile118Val | missense_variant | 3/18 | 1 | NM_023928.5 | P1 | |
AACS | ENST00000418937.6 | c.352A>G | p.Ile118Val | missense_variant, NMD_transcript_variant | 3/9 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.189 AC: 28747AN: 152004Hom.: 3122 Cov.: 32
GnomAD3 exomes AF: 0.161 AC: 40469AN: 251408Hom.: 3647 AF XY: 0.162 AC XY: 22070AN XY: 135878
GnomAD4 exome AF: 0.145 AC: 212018AN: 1461576Hom.: 16827 Cov.: 31 AF XY: 0.147 AC XY: 107057AN XY: 727076
GnomAD4 genome ? AF: 0.189 AC: 28786AN: 152124Hom.: 3131 Cov.: 32 AF XY: 0.189 AC XY: 14054AN XY: 74360
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at