13-24778307-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_031277.3(RNF17):c.330T>G(p.Cys110Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000312 in 1,603,026 control chromosomes in the GnomAD database, with no homozygous occurrence. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_031277.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RNF17 | ENST00000255324.10 | c.330T>G | p.Cys110Trp | missense_variant | Exon 4 of 36 | 2 | NM_031277.3 | ENSP00000255324.5 | ||
RNF17 | ENST00000255325.6 | c.330T>G | p.Cys110Trp | missense_variant | Exon 4 of 15 | 2 | ENSP00000255325.6 | |||
RNF17 | ENST00000255326.4 | n.333T>G | non_coding_transcript_exon_variant | Exon 4 of 12 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152184Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000798 AC: 2AN: 250560Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135464
GnomAD4 exome AF: 0.00000276 AC: 4AN: 1450842Hom.: 0 Cov.: 27 AF XY: 0.00000138 AC XY: 1AN XY: 722664
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152184Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.330T>G (p.C110W) alteration is located in exon 4 (coding exon 4) of the RNF17 gene. This alteration results from a T to G substitution at nucleotide position 330, causing the cysteine (C) at amino acid position 110 to be replaced by a tryptophan (W). 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