14-52553547-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001099652.2(GPR137C):āc.400C>Gā(p.Leu134Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000124 in 1,607,834 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L134F) has been classified as Uncertain significance.
Frequency
Consequence
NM_001099652.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GPR137C | ENST00000321662.11 | c.400C>G | p.Leu134Val | missense_variant | Exon 1 of 7 | 1 | NM_001099652.2 | ENSP00000315106.6 | ||
GPR137C | ENST00000542169.6 | c.259C>G | p.Leu87Val | missense_variant | Exon 1 of 8 | 1 | ENSP00000439165.2 | |||
GPR137C | ENST00000555622.1 | c.127C>G | p.Leu43Val | missense_variant | Exon 1 of 5 | 3 | ENSP00000452563.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152164Hom.: 0 Cov.: 31
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1455670Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 724232
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152164Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74346
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at