rs2229579
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001841.3(CNR2):c.946C>T(p.His316Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0952 in 1,614,024 control chromosomes in the GnomAD database, including 8,083 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001841.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CNR2 | NM_001841.3 | c.946C>T | p.His316Tyr | missense_variant | 2/2 | ENST00000374472.5 | |
CNR2 | XM_011540629.4 | c.946C>T | p.His316Tyr | missense_variant | 2/2 | ||
CNR2 | XM_017000261.3 | c.946C>T | p.His316Tyr | missense_variant | 3/3 | ||
CNR2 | XM_047444833.1 | c.946C>T | p.His316Tyr | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CNR2 | ENST00000374472.5 | c.946C>T | p.His316Tyr | missense_variant | 2/2 | 1 | NM_001841.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0772 AC: 11744AN: 152046Hom.: 604 Cov.: 32
GnomAD3 exomes AF: 0.100 AC: 25220AN: 251462Hom.: 1503 AF XY: 0.102 AC XY: 13924AN XY: 135902
GnomAD4 exome AF: 0.0971 AC: 141916AN: 1461860Hom.: 7477 Cov.: 65 AF XY: 0.0980 AC XY: 71259AN XY: 727228
GnomAD4 genome ? AF: 0.0773 AC: 11756AN: 152164Hom.: 606 Cov.: 32 AF XY: 0.0769 AC XY: 5718AN XY: 74390
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at