13-24789763-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_031277.3(RNF17):āc.926A>Gā(p.Asp309Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000851 in 1,574,082 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_031277.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RNF17 | NM_031277.3 | c.926A>G | p.Asp309Gly | missense_variant | 9/36 | ENST00000255324.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RNF17 | ENST00000255324.10 | c.926A>G | p.Asp309Gly | missense_variant | 9/36 | 2 | NM_031277.3 | P1 | |
RNF17 | ENST00000255325.6 | c.926A>G | p.Asp309Gly | missense_variant | 9/15 | 2 | |||
RNF17 | ENST00000255326.4 | n.929A>G | non_coding_transcript_exon_variant | 9/12 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152120Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000240 AC: 6AN: 249964Hom.: 0 AF XY: 0.0000370 AC XY: 5AN XY: 135112
GnomAD4 exome AF: 0.0000914 AC: 130AN: 1421962Hom.: 0 Cov.: 24 AF XY: 0.0000916 AC XY: 65AN XY: 709932
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152120Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74314
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at