2-200925883-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006190.5(ORC2):c.1100G>A(p.Arg367His) variant causes a missense change. The variant allele was found at a frequency of 0.000252 in 1,601,116 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006190.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ORC2 | NM_006190.5 | c.1100G>A | p.Arg367His | missense_variant | Exon 13 of 18 | ENST00000234296.7 | NP_006181.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000210 AC: 32AN: 152088Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000104 AC: 26AN: 250880Hom.: 0 AF XY: 0.000103 AC XY: 14AN XY: 135630
GnomAD4 exome AF: 0.000255 AC: 370AN: 1448910Hom.: 0 Cov.: 25 AF XY: 0.000262 AC XY: 189AN XY: 721182
GnomAD4 genome AF: 0.000223 AC: 34AN: 152206Hom.: 0 Cov.: 32 AF XY: 0.000188 AC XY: 14AN XY: 74420
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1100G>A (p.R367H) alteration is located in exon 13 (coding exon 11) of the ORC2 gene. This alteration results from a G to A substitution at nucleotide position 1100, causing the arginine (R) at amino acid position 367 to be replaced by a histidine (H). 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