rs773785078
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 1P and 1B. PP2BP4
The NM_001256071.3(RNF213):āc.12711C>Gā(p.Asp4237Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000547 in 1,461,580 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RNF213 | NM_001256071.3 | c.12711C>G | p.Asp4237Glu | missense_variant | 48/68 | ENST00000582970.6 | |
RNF213-AS1 | NR_029376.1 | n.241-17406G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RNF213 | ENST00000582970.6 | c.12711C>G | p.Asp4237Glu | missense_variant | 48/68 | 1 | NM_001256071.3 | P2 | |
RNF213-AS1 | ENST00000575034.5 | n.191-17406G>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250764Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135780
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461580Hom.: 0 Cov.: 32 AF XY: 0.00000550 AC XY: 4AN XY: 727098
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
Moyamoya disease 2 Uncertain:1
Uncertain significance, no assertion criteria provided | research | Department of Internal Medicine, University of Texas Health Science Center at Houston | Sep 08, 2014 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at