chr1-159065976-C-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_004833.3(AIM2):c.750G>A(p.Pro250Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000242 in 1,610,106 control chromosomes in the GnomAD database, including 1 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. Synonymous variant affecting the same amino acid position (i.e. P250P) has been classified as Benign.
Frequency
Consequence
NM_004833.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AIM2 | NM_004833.3 | c.750G>A | p.Pro250Pro | synonymous_variant | Exon 4 of 6 | ENST00000368130.9 | NP_004824.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151460Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251052Hom.: 0 AF XY: 0.0000663 AC XY: 9AN XY: 135710
GnomAD4 exome AF: 0.0000254 AC: 37AN: 1458528Hom.: 1 Cov.: 31 AF XY: 0.0000372 AC XY: 27AN XY: 725486
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151578Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74094
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at