NM_001841.3:c.846T>C
Variant summary
Our verdict is Benign. The variant received -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_001841.3(CNR2):c.846T>C(p.Ala282Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.594 in 1,613,860 control chromosomes in the GnomAD database, including 287,075 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.
Frequency
Consequence
NM_001841.3 synonymous
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CNR2 | NM_001841.3 | c.846T>C | p.Ala282Ala | synonymous_variant | Exon 2 of 2 | ENST00000374472.5 | NP_001832.1 | |
CNR2 | XM_011540629.4 | c.846T>C | p.Ala282Ala | synonymous_variant | Exon 2 of 2 | XP_011538931.1 | ||
CNR2 | XM_017000261.3 | c.846T>C | p.Ala282Ala | synonymous_variant | Exon 3 of 3 | XP_016855750.1 | ||
CNR2 | XM_047444833.1 | c.846T>C | p.Ala282Ala | synonymous_variant | Exon 2 of 2 | XP_047300789.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.635 AC: 96436AN: 151958Hom.: 31010 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.617 AC: 155135AN: 251322 AF XY: 0.618 show subpopulations
GnomAD4 exome AF: 0.589 AC: 861510AN: 1461784Hom.: 256055 Cov.: 61 AF XY: 0.593 AC XY: 431033AN XY: 727206 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.634 AC: 96488AN: 152076Hom.: 31020 Cov.: 32 AF XY: 0.638 AC XY: 47402AN XY: 74352 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at