12-108292217-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001142343.2(CMKLR1):c.746G>A(p.Arg249His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000211 in 1,613,960 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001142343.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CMKLR1 | ENST00000550402.6 | c.746G>A | p.Arg249His | missense_variant | Exon 4 of 4 | 1 | NM_001142343.2 | ENSP00000449716.1 | ||
CMKLR1 | ENST00000552995.5 | c.740G>A | p.Arg247His | missense_variant | Exon 3 of 3 | 1 | ENSP00000447579.1 | |||
CMKLR1 | ENST00000312143.11 | c.746G>A | p.Arg249His | missense_variant | Exon 3 of 3 | 2 | ENSP00000311733.7 | |||
CMKLR1 | ENST00000412676.5 | c.746G>A | p.Arg249His | missense_variant | Exon 3 of 3 | 3 | ENSP00000401293.1 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152060Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000281 AC: 7AN: 249336Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135240
GnomAD4 exome AF: 0.0000198 AC: 29AN: 1461782Hom.: 0 Cov.: 30 AF XY: 0.0000220 AC XY: 16AN XY: 727178
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152178Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74400
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.746G>A (p.R249H) alteration is located in exon 4 (coding exon 2) of the CMKLR1 gene. This alteration results from a G to A substitution at nucleotide position 746, causing the arginine (R) at amino acid position 249 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