12-12661986-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006143.3(GPR19):c.463G>A(p.Val155Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000118 in 1,613,086 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_006143.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GPR19 | ENST00000651487.1 | c.463G>A | p.Val155Ile | missense_variant | Exon 4 of 4 | NM_006143.3 | ENSP00000498976.1 | |||
GPR19 | ENST00000332427.6 | c.463G>A | p.Val155Ile | missense_variant | Exon 4 of 4 | 4 | ENSP00000333744.2 | |||
GPR19 | ENST00000540510.1 | c.463G>A | p.Val155Ile | missense_variant | Exon 2 of 2 | 2 | ENSP00000441832.1 |
Frequencies
GnomAD3 genomes AF: 0.000172 AC: 26AN: 151232Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000243 AC: 61AN: 251296Hom.: 0 AF XY: 0.000250 AC XY: 34AN XY: 135798
GnomAD4 exome AF: 0.000112 AC: 164AN: 1461854Hom.: 0 Cov.: 35 AF XY: 0.000132 AC XY: 96AN XY: 727226
GnomAD4 genome AF: 0.000172 AC: 26AN: 151232Hom.: 0 Cov.: 33 AF XY: 0.000271 AC XY: 20AN XY: 73896
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.463G>A (p.V155I) alteration is located in exon 4 (coding exon 1) of the GPR19 gene. This alteration results from a G to A substitution at nucleotide position 463, causing the valine (V) at amino acid position 155 to be replaced by an isoleucine (I). 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