1-211313445-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001136223.3(RCOR3):c.1339C>T(p.Arg447Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000062 in 1,613,712 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001136223.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152128Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250836Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135538
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461584Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 727068
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152128Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1339C>T (p.R447W) alteration is located in exon 12 (coding exon 12) of the RCOR3 gene. This alteration results from a C to T substitution at nucleotide position 1339, causing the arginine (R) at amino acid position 447 to be replaced by a tryptophan (W). 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