17-76076685-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003857.4(GALR2):āc.418C>Gā(p.Arg140Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000337 in 1,600,504 control chromosomes in the GnomAD database, including 1 homozygotes. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_003857.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GALR2 | NM_003857.4 | c.418C>G | p.Arg140Gly | missense_variant | Exon 2 of 2 | ENST00000329003.4 | NP_003848.1 | |
GALR2 | XM_011525427.4 | c.247C>G | p.Arg83Gly | missense_variant | Exon 4 of 4 | XP_011523729.1 | ||
GALR2 | XM_047436984.1 | c.247C>G | p.Arg83Gly | missense_variant | Exon 4 of 4 | XP_047292940.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152222Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000505 AC: 12AN: 237740Hom.: 1 AF XY: 0.0000767 AC XY: 10AN XY: 130442
GnomAD4 exome AF: 0.0000359 AC: 52AN: 1448282Hom.: 1 Cov.: 31 AF XY: 0.0000541 AC XY: 39AN XY: 720682
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152222Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74354
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.418C>G (p.R140G) alteration is located in exon 2 (coding exon 2) of the GALR2 gene. This alteration results from a C to G substitution at nucleotide position 418, causing the arginine (R) at amino acid position 140 to be replaced by a glycine (G). 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