chr16-4823862-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032569.4(GLYR1):c.583G>A(p.Gly195Arg) variant causes a missense change. The variant allele was found at a frequency of 0.000026 in 1,613,960 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G195V) has been classified as Uncertain significance.
Frequency
Consequence
NM_032569.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GLYR1 | NM_032569.4 | c.583G>A | p.Gly195Arg | missense_variant | 6/16 | ENST00000321919.14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GLYR1 | ENST00000321919.14 | c.583G>A | p.Gly195Arg | missense_variant | 6/16 | 1 | NM_032569.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152090Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000477 AC: 12AN: 251472Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135914
GnomAD4 exome AF: 0.0000267 AC: 39AN: 1461870Hom.: 0 Cov.: 32 AF XY: 0.0000303 AC XY: 22AN XY: 727236
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152090Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74284
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 17, 2023 | The c.583G>A (p.G195R) alteration is located in exon 6 (coding exon 6) of the GLYR1 gene. This alteration results from a G to A substitution at nucleotide position 583, causing the glycine (G) at amino acid position 195 to be replaced by an arginine (R). 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