rs761469213
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_207111.4(RNF216):c.2468G>A(p.Arg823His) variant causes a missense change. The variant allele was found at a frequency of 0.0000116 in 1,557,550 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R823C) has been classified as Uncertain significance.
Frequency
Consequence
NM_207111.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RNF216 | NM_207111.4 | c.2468G>A | p.Arg823His | missense_variant | 17/17 | ENST00000389902.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RNF216 | ENST00000389902.8 | c.2468G>A | p.Arg823His | missense_variant | 17/17 | 1 | NM_207111.4 | P4 | |
RNF216 | ENST00000425013.6 | c.2297G>A | p.Arg766His | missense_variant | 17/17 | 1 | A1 | ||
RNF216 | ENST00000389900.8 | c.*1585G>A | 3_prime_UTR_variant, NMD_transcript_variant | 16/16 | 1 | ||||
RNF216 | ENST00000469375.1 | n.685G>A | non_coding_transcript_exon_variant | 4/4 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152148Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000935 AC: 2AN: 213858Hom.: 0 AF XY: 0.0000175 AC XY: 2AN XY: 114072
GnomAD4 exome AF: 0.0000121 AC: 17AN: 1405402Hom.: 0 Cov.: 30 AF XY: 0.0000130 AC XY: 9AN XY: 690634
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152148Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74316
ClinVar
Submissions by phenotype
Rosette-forming glioneuronal tumor Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Donald Williams Parsons Laboratory, Baylor College of Medicine | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at