rs78074274
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016083.6(CNR1):c.-183G>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000656 in 152,342 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_016083.6 5_prime_UTR
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CNR1 | NM_016083.6 | c.-183G>T | 5_prime_UTR_variant | 1/2 | ENST00000369501.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CNR1 | ENST00000369501.3 | c.-183G>T | 5_prime_UTR_variant | 1/2 | 1 | NM_016083.6 | P1 | ||
CNR1 | ENST00000551417.2 | c.-364G>T | 5_prime_UTR_variant | 1/4 | 5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152224Hom.: 0 Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 502Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 356
GnomAD4 genome ? AF: 0.00000656 AC: 1AN: 152342Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74498
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at