11-3218464-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001164377.1(MRGPRG):c.350G>A(p.Arg117Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000431 in 1,391,274 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001164377.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MRGPRG | ENST00000332314.3 | c.350G>A | p.Arg117Gln | missense_variant | Exon 1 of 1 | 6 | NM_001164377.1 | ENSP00000330612.3 | ||
MRGPRG-AS1 | ENST00000420873.2 | n.77C>T | non_coding_transcript_exon_variant | Exon 1 of 3 | 2 | |||||
MRGPRG-AS1 | ENST00000434798.1 | n.133C>T | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 | |||||
MRGPRG-AS1 | ENST00000531711.1 | n.98C>T | non_coding_transcript_exon_variant | Exon 1 of 3 | 4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000139 AC: 2AN: 143442Hom.: 0 AF XY: 0.0000129 AC XY: 1AN XY: 77242
GnomAD4 exome AF: 0.00000431 AC: 6AN: 1391274Hom.: 0 Cov.: 32 AF XY: 0.00000729 AC XY: 5AN XY: 686150
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.350G>A (p.R117Q) alteration is located in exon 1 (coding exon 1) of the MRGPRG gene. This alteration results from a G to A substitution at nucleotide position 350, causing the arginine (R) at amino acid position 117 to be replaced by a glutamine (Q). 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