1-23874558-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001841.3(CNR2):āc.1060G>Cā(p.Asp354His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000929 in 1,613,810 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict 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 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CNR2 | NM_001841.3 | c.1060G>C | p.Asp354His | missense_variant | 2/2 | ENST00000374472.5 | NP_001832.1 | |
CNR2 | XM_011540629.4 | c.1060G>C | p.Asp354His | missense_variant | 2/2 | XP_011538931.1 | ||
CNR2 | XM_017000261.3 | c.1060G>C | p.Asp354His | missense_variant | 3/3 | XP_016855750.1 | ||
CNR2 | XM_047444833.1 | c.1060G>C | p.Asp354His | missense_variant | 2/2 | XP_047300789.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CNR2 | ENST00000374472.5 | c.1060G>C | p.Asp354His | missense_variant | 2/2 | 1 | NM_001841.3 | ENSP00000363596.4 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152132Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000239 AC: 6AN: 251212Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135784
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1461678Hom.: 0 Cov.: 34 AF XY: 0.00000688 AC XY: 5AN XY: 727152
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152132Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74306
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 11, 2024 | The c.1060G>C (p.D354H) alteration is located in exon 2 (coding exon 1) of the CNR2 gene. This alteration results from a G to C substitution at nucleotide position 1060, causing the aspartic acid (D) at amino acid position 354 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at