12-108291935-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001142343.2(CMKLR1):c.1028G>T(p.Gly343Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,880 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict 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
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CMKLR1 | ENST00000550402.6 | c.1028G>T | p.Gly343Val | missense_variant | Exon 4 of 4 | 1 | NM_001142343.2 | ENSP00000449716.1 | ||
CMKLR1 | ENST00000552995.5 | c.1022G>T | p.Gly341Val | missense_variant | Exon 3 of 3 | 1 | ENSP00000447579.1 | |||
CMKLR1 | ENST00000312143.11 | c.1028G>T | p.Gly343Val | missense_variant | Exon 3 of 3 | 2 | ENSP00000311733.7 | |||
CMKLR1 | ENST00000412676.5 | c.1028G>T | p.Gly343Val | missense_variant | Exon 3 of 3 | 3 | ENSP00000401293.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000802 AC: 2AN: 249458Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135352
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461880Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 727240
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1028G>T (p.G343V) 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 1028, causing the glycine (G) at amino acid position 343 to be replaced by a valine (V). 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