rs148776624
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 1P and 5B. PP2BP4_StrongBP6
The NM_001256071.3(RNF213):c.14195A>C(p.Lys4732Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000424 in 1,614,168 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K4732E) has been classified as Benign.
Frequency
Consequence
NM_001256071.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RNF213 | NM_001256071.3 | c.14195A>C | p.Lys4732Thr | missense_variant | 59/68 | ENST00000582970.6 | |
RNF213-AS1 | NR_029376.1 | n.241-28513T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RNF213 | ENST00000582970.6 | c.14195A>C | p.Lys4732Thr | missense_variant | 59/68 | 1 | NM_001256071.3 | P2 | |
RNF213-AS1 | ENST00000575034.5 | n.191-28513T>G | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.000309 AC: 47AN: 152158Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000720 AC: 181AN: 251484Hom.: 1 AF XY: 0.000780 AC XY: 106AN XY: 135916
GnomAD4 exome AF: 0.000436 AC: 637AN: 1461892Hom.: 4 Cov.: 34 AF XY: 0.000518 AC XY: 377AN XY: 727248
GnomAD4 genome ? AF: 0.000309 AC: 47AN: 152276Hom.: 0 Cov.: 32 AF XY: 0.000430 AC XY: 32AN XY: 74460
ClinVar
Submissions by phenotype
Stroke disorder Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Institute of Human Genetics, University Hospital Muenster | Dec 07, 2021 | ACMG categories: PM1,BP6 - |
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 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 11, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at