chr1-37567000-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_013285.3(GNL2):c.2051G>A(p.Arg684Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000106 in 1,610,414 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 (★).
Frequency
Consequence
NM_013285.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 151892Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 247882Hom.: 0 AF XY: 0.0000150 AC XY: 2AN XY: 133672
GnomAD4 exome AF: 0.00000891 AC: 13AN: 1458522Hom.: 0 Cov.: 31 AF XY: 0.00000827 AC XY: 6AN XY: 725172
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151892Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74156
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2051G>A (p.R684Q) alteration is located in exon 16 (coding exon 16) of the GNL2 gene. This alteration results from a G to A substitution at nucleotide position 2051, causing the arginine (R) at amino acid position 684 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