17-8393263-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001146684.3(RNF222):c.199G>A(p.Val67Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000185 in 1,551,222 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_001146684.3 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RNF222 | NM_001146684.3 | c.199G>A | p.Val67Ile | missense_variant | Exon 3 of 3 | ENST00000399398.3 | NP_001140156.1 | |
RNF222 | XM_011523978.4 | c.199G>A | p.Val67Ile | missense_variant | Exon 3 of 3 | XP_011522280.1 | ||
RNF222 | XM_011523980.4 | c.199G>A | p.Val67Ile | missense_variant | Exon 2 of 2 | XP_011522282.1 | ||
RNF222 | XM_011523981.4 | c.199G>A | p.Val67Ile | missense_variant | Exon 2 of 2 | XP_011522283.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152212Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000780 AC: 12AN: 153766Hom.: 0 AF XY: 0.0000978 AC XY: 8AN XY: 81772
GnomAD4 exome AF: 0.000194 AC: 271AN: 1399010Hom.: 0 Cov.: 34 AF XY: 0.000196 AC XY: 135AN XY: 690036
GnomAD4 genome AF: 0.000105 AC: 16AN: 152212Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.199G>A (p.V67I) alteration is located in exon 3 (coding exon 1) of the RNF222 gene. This alteration results from a G to A substitution at nucleotide position 199, causing the valine (V) at amino acid position 67 to be replaced by an isoleucine (I). 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