11-63912146-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_173587.4(RCOR2):āc.1291C>Gā(p.Arg431Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000392 in 1,530,152 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_173587.4 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RCOR2 | NM_173587.4 | c.1291C>G | p.Arg431Gly | missense_variant | 12/12 | ENST00000301459.5 | NP_775858.2 | |
RCOR2 | NM_001363648.2 | c.1061C>G | p.Pro354Arg | missense_variant | 11/11 | NP_001350577.1 | ||
RCOR2 | XM_047426828.1 | c.1483C>G | p.Arg495Gly | missense_variant | 14/14 | XP_047282784.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RCOR2 | ENST00000301459.5 | c.1291C>G | p.Arg431Gly | missense_variant | 12/12 | 1 | NM_173587.4 | ENSP00000301459.4 | ||
RCOR2 | ENST00000473926.2 | n.85C>G | non_coding_transcript_exon_variant | 2/2 | 3 | |||||
RCOR2 | ENST00000489217.1 | n.534C>G | non_coding_transcript_exon_variant | 3/3 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151900Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.00000290 AC: 4AN: 1378252Hom.: 0 Cov.: 33 AF XY: 0.00000294 AC XY: 2AN XY: 680448
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151900Hom.: 0 Cov.: 31 AF XY: 0.0000270 AC XY: 2AN XY: 74188
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 19, 2022 | The c.1291C>G (p.R431G) alteration is located in exon 12 (coding exon 12) of the RCOR2 gene. This alteration results from a C to G substitution at nucleotide position 1291, causing the arginine (R) at amino acid position 431 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at