17-76076649-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003857.4(GALR2):c.382C>A(p.Arg128Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000808 in 1,584,794 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003857.4 missense
Scores
Clinical Significance
Conservation
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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.382C>A | p.Arg128Ser | missense_variant | Exon 2 of 2 | ENST00000329003.4 | NP_003848.1 | |
GALR2 | XM_011525427.4 | c.211C>A | p.Arg71Ser | missense_variant | Exon 4 of 4 | XP_011523729.1 | ||
GALR2 | XM_047436984.1 | c.211C>A | p.Arg71Ser | missense_variant | Exon 4 of 4 | XP_047292940.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152222Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000440 AC: 10AN: 227136Hom.: 0 AF XY: 0.0000400 AC XY: 5AN XY: 125082
GnomAD4 exome AF: 0.0000831 AC: 119AN: 1432572Hom.: 0 Cov.: 31 AF XY: 0.0000788 AC XY: 56AN XY: 711034
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152222Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.382C>A (p.R128S) alteration is located in exon 2 (coding exon 2) of the GALR2 gene. This alteration results from a C to A substitution at nucleotide position 382, causing the arginine (R) at amino acid position 128 to be replaced by a serine (S). 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