1-23875421-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001841.3(CNR2):c.197G>A(p.Arg66Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00205 in 1,614,198 control chromosomes in the GnomAD database, including 46 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001841.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CNR2 | NM_001841.3 | c.197G>A | p.Arg66Gln | missense_variant | 2/2 | ENST00000374472.5 | NP_001832.1 | |
CNR2 | XM_011540629.4 | c.197G>A | p.Arg66Gln | missense_variant | 2/2 | XP_011538931.1 | ||
CNR2 | XM_017000261.3 | c.197G>A | p.Arg66Gln | missense_variant | 3/3 | XP_016855750.1 | ||
CNR2 | XM_047444833.1 | c.197G>A | p.Arg66Gln | missense_variant | 2/2 | XP_047300789.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CNR2 | ENST00000374472.5 | c.197G>A | p.Arg66Gln | missense_variant | 2/2 | 1 | NM_001841.3 | ENSP00000363596.4 |
Frequencies
GnomAD3 genomes AF: 0.00938 AC: 1427AN: 152208Hom.: 28 Cov.: 33
GnomAD3 exomes AF: 0.00298 AC: 747AN: 250902Hom.: 14 AF XY: 0.00228 AC XY: 310AN XY: 135810
GnomAD4 exome AF: 0.00128 AC: 1871AN: 1461872Hom.: 19 Cov.: 68 AF XY: 0.00116 AC XY: 844AN XY: 727232
GnomAD4 genome AF: 0.00939 AC: 1431AN: 152326Hom.: 27 Cov.: 33 AF XY: 0.00948 AC XY: 706AN XY: 74476
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Dec 31, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at