chrX-47089791-A-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM1BP4BS2
The NM_152869.4(RGN):c.362A>G(p.Glu121Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000274 in 1,094,117 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152869.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 19
GnomAD4 exome AF: 0.00000274 AC: 3AN: 1094117Hom.: 0 Cov.: 29 AF XY: 0.00000556 AC XY: 2AN XY: 359791
GnomAD4 genome Cov.: 19
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.362A>G (p.E121G) alteration is located in exon 5 (coding exon 3) of the RGN gene. This alteration results from a A to G substitution at nucleotide position 362, causing the glutamic acid (E) at amino acid position 121 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