4-190026440-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001286820.2(FRG2):c.278G>C(p.Arg93Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict 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. R93Q) has been classified as Likely benign.
Frequency
Consequence
NM_001286820.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 143008Hom.: 0 Cov.: 22 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000207 AC: 3AN: 1450354Hom.: 1 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 721960
GnomAD4 genome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 143008Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 69492
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.275G>C (p.R92P) alteration is located in exon 3 (coding exon 3) of the FRG2 gene. This alteration results from a G to C substitution at nucleotide position 275, causing the arginine (R) at amino acid position 92 to be replaced by a proline (P). 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
Publications
No publications associated with this variant yet.