17-74371783-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001331076.1(GPR142):c.308C>T(p.Pro103Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000062 in 1,612,396 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_001331076.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GPR142 | NM_001331076.1 | c.308C>T | p.Pro103Leu | missense_variant | Exon 4 of 4 | ENST00000582579.6 | NP_001318005.1 | |
GPR142 | NM_181790.1 | c.572C>T | p.Pro191Leu | missense_variant | Exon 4 of 4 | NP_861455.1 | ||
GPR142 | NM_001331077.1 | c.308C>T | p.Pro103Leu | missense_variant | Exon 4 of 4 | NP_001318006.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GPR142 | ENST00000582579.6 | c.308C>T | p.Pro103Leu | missense_variant | Exon 4 of 4 | 1 | NM_001331076.1 | ENSP00000464632.2 | ||
GPR142 | ENST00000335666.4 | c.572C>T | p.Pro191Leu | missense_variant | Exon 4 of 4 | 1 | ENSP00000335158.4 | |||
GPR142 | ENST00000585308.6 | c.308C>T | p.Pro103Leu | missense_variant | Exon 4 of 4 | 3 | ENSP00000463521.2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152232Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000801 AC: 2AN: 249752Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135186
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1460164Hom.: 0 Cov.: 39 AF XY: 0.00000688 AC XY: 5AN XY: 726408
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152232Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74372
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.572C>T (p.P191L) alteration is located in exon 4 (coding exon 4) of the GPR142 gene. This alteration results from a C to T substitution at nucleotide position 572, causing the proline (P) at amino acid position 191 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