rs387907368
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3PP5
The NM_207111.4(RNF216):c.2251C>T(p.Arg751Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000547 in 1,461,884 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 Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R751H) 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 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RNF216 | NM_207111.4 | c.2251C>T | p.Arg751Cys | missense_variant | 15/17 | ENST00000389902.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RNF216 | ENST00000389902.8 | c.2251C>T | p.Arg751Cys | missense_variant | 15/17 | 1 | NM_207111.4 | P4 | |
RNF216 | ENST00000425013.6 | c.2080C>T | p.Arg694Cys | missense_variant | 15/17 | 1 | A1 | ||
RNF216 | ENST00000389900.8 | c.*1368C>T | 3_prime_UTR_variant, NMD_transcript_variant | 14/16 | 1 | ||||
RNF216 | ENST00000469375.1 | n.468C>T | non_coding_transcript_exon_variant | 2/4 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461884Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 727242
GnomAD4 genome ? Cov.: 31
ClinVar
Submissions by phenotype
Cerebellar ataxia-hypogonadism syndrome Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | May 23, 2013 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at