chr17-80373064-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 1P and 1B. PP3BS1_Supporting
The NM_001256071.3(RNF213):c.12841C>T(p.Arg4281Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000167 in 1,613,874 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as other (no stars).
Frequency
Consequence
NM_001256071.3 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 |
---|---|---|---|---|---|---|---|---|
RNF213 | NM_001256071.3 | c.12841C>T | p.Arg4281Trp | missense_variant | Exon 49 of 68 | ENST00000582970.6 | NP_001243000.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RNF213 | ENST00000582970.6 | c.12841C>T | p.Arg4281Trp | missense_variant | Exon 49 of 68 | 1 | NM_001256071.3 | ENSP00000464087.1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152088Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250844Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135776
GnomAD4 exome AF: 0.0000171 AC: 25AN: 1461786Hom.: 0 Cov.: 32 AF XY: 0.0000261 AC XY: 19AN XY: 727204
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152088Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74300
ClinVar
Submissions by phenotype
Anaplastic ependymoma Other:1
- 3: Mutations in other consensus cancer genes, not currently considered targetable
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at