4-190025631-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.770G>C(p.Arg257Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001286820.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FRG2 | ENST00000504750.6 | c.770G>C | p.Arg257Thr | missense_variant | Exon 4 of 4 | 1 | NM_001286820.2 | ENSP00000424015.1 | ||
FRG2 | ENST00000378763.1 | c.767G>C | p.Arg256Thr | missense_variant | Exon 4 of 4 | 1 | ENSP00000368039.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 119884Hom.: 0 Cov.: 15 FAILED QC
GnomAD4 exome AF: 0.00000514 AC: 6AN: 1168044Hom.: 0 Cov.: 18 AF XY: 0.00000172 AC XY: 1AN XY: 580314
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000833 AC: 1AN: 119988Hom.: 0 Cov.: 15 AF XY: 0.0000176 AC XY: 1AN XY: 56752
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.767G>C (p.R256T) alteration is located in exon 4 (coding exon 4) of the FRG2 gene. This alteration results from a G to C substitution at nucleotide position 767, causing the arginine (R) at amino acid position 256 to be replaced by a threonine (T). 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