1-23875288-A-T
Variant summary
Our verdict is Likely benign. The variant received -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001841.3(CNR2):c.330T>A(p.Ile110Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000041 in 1,461,892 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001841.3 synonymous
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CNR2 | NM_001841.3 | c.330T>A | p.Ile110Ile | synonymous_variant | Exon 2 of 2 | ENST00000374472.5 | NP_001832.1 | |
CNR2 | XM_011540629.4 | c.330T>A | p.Ile110Ile | synonymous_variant | Exon 2 of 2 | XP_011538931.1 | ||
CNR2 | XM_017000261.3 | c.330T>A | p.Ile110Ile | synonymous_variant | Exon 3 of 3 | XP_016855750.1 | ||
CNR2 | XM_047444833.1 | c.330T>A | p.Ile110Ile | synonymous_variant | Exon 2 of 2 | XP_047300789.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000410 AC: 6AN: 1461892Hom.: 0 Cov.: 69 AF XY: 0.00000275 AC XY: 2AN XY: 727248 show subpopulations
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at