rs767372181
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_004560.4(ROR2):c.904C>T(p.Arg302Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000561 in 1,603,342 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 Uncertain significance (★★). Synonymous variant affecting the same amino acid position (i.e. R302R) has been classified as Likely benign.
Frequency
Consequence
NM_004560.4 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 |
---|---|---|---|---|---|---|---|
ROR2 | NM_004560.4 | c.904C>T | p.Arg302Cys | missense_variant | 6/9 | ENST00000375708.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ROR2 | ENST00000375708.4 | c.904C>T | p.Arg302Cys | missense_variant | 6/9 | 1 | NM_004560.4 | P1 | |
ROR2 | ENST00000375715.5 | c.484C>T | p.Arg162Cys | missense_variant | 6/13 | 1 | |||
ROR2 | ENST00000550066.5 | n.1372C>T | non_coding_transcript_exon_variant | 8/11 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152198Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00000445 AC: 1AN: 224482Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 122916
GnomAD4 exome AF: 0.00000482 AC: 7AN: 1451144Hom.: 0 Cov.: 31 AF XY: 0.00000693 AC XY: 5AN XY: 721116
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152198Hom.: 0 Cov.: 34 AF XY: 0.0000134 AC XY: 1AN XY: 74354
ClinVar
Submissions by phenotype
Autosomal recessive Robinow syndrome Pathogenic:1
Likely pathogenic, no assertion criteria provided | research | Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | - | - - |
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Aug 28, 2013 | - - |
Brachydactyly type B1;C5399974:Autosomal recessive Robinow syndrome Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Dec 16, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at