19-50771138-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001506.2(GPR32):c.538C>T(p.Arg180Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000589 in 1,614,058 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R180Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_001506.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 152180Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000835 AC: 21AN: 251402Hom.: 0 AF XY: 0.0000809 AC XY: 11AN XY: 135890
GnomAD4 exome AF: 0.0000458 AC: 67AN: 1461878Hom.: 0 Cov.: 33 AF XY: 0.0000619 AC XY: 45AN XY: 727240
GnomAD4 genome AF: 0.000184 AC: 28AN: 152180Hom.: 0 Cov.: 31 AF XY: 0.000215 AC XY: 16AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.538C>T (p.R180W) alteration is located in exon 1 (coding exon 1) of the GPR32 gene. This alteration results from a C to T substitution at nucleotide position 538, causing the arginine (R) at amino acid position 180 to be replaced by a tryptophan (W). 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