chr12-108292211-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001142343.2(CMKLR1):c.752G>T(p.Arg251Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000719 in 1,613,844 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001142343.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CMKLR1 | ENST00000550402.6 | c.752G>T | p.Arg251Leu | missense_variant | Exon 4 of 4 | 1 | NM_001142343.2 | ENSP00000449716.1 | ||
CMKLR1 | ENST00000552995.5 | c.746G>T | p.Arg249Leu | missense_variant | Exon 3 of 3 | 1 | ENSP00000447579.1 | |||
CMKLR1 | ENST00000312143.11 | c.752G>T | p.Arg251Leu | missense_variant | Exon 3 of 3 | 2 | ENSP00000311733.7 | |||
CMKLR1 | ENST00000412676.5 | c.752G>T | p.Arg251Leu | missense_variant | Exon 3 of 3 | 3 | ENSP00000401293.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152054Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249348Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135260
GnomAD4 exome AF: 0.0000766 AC: 112AN: 1461790Hom.: 0 Cov.: 30 AF XY: 0.0000729 AC XY: 53AN XY: 727190
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152054Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74260
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.752G>T (p.R251L) alteration is located in exon 4 (coding exon 2) of the CMKLR1 gene. This alteration results from a G to T substitution at nucleotide position 752, causing the arginine (R) at amino acid position 251 to be replaced by a leucine (L). 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