rs41279138
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001098200.2(GPR18):c.559C>T(p.Leu187Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,136 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_001098200.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GPR18 | NM_001098200.2 | c.559C>T | p.Leu187Leu | synonymous_variant | Exon 2 of 2 | ENST00000397470.5 | NP_001091670.1 | |
UBAC2 | NM_001144072.2 | c.389+10690G>A | intron_variant | Intron 4 of 8 | ENST00000403766.8 | NP_001137544.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GPR18 | ENST00000397470.5 | c.559C>T | p.Leu187Leu | synonymous_variant | Exon 2 of 2 | 1 | NM_001098200.2 | ENSP00000380610.2 | ||
UBAC2 | ENST00000403766.8 | c.389+10690G>A | intron_variant | Intron 4 of 8 | 2 | NM_001144072.2 | ENSP00000383911.3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152136Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152136Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at