NM_006190.5:c.812C>T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_006190.5(ORC2):c.812C>T(p.Thr271Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000213 in 1,547,172 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_006190.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ORC2 | NM_006190.5 | c.812C>T | p.Thr271Ile | missense_variant | Exon 11 of 18 | ENST00000234296.7 | NP_006181.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000132 AC: 20AN: 151980Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000198 AC: 4AN: 201562Hom.: 0 AF XY: 0.0000180 AC XY: 2AN XY: 110972
GnomAD4 exome AF: 0.00000932 AC: 13AN: 1395192Hom.: 0 Cov.: 24 AF XY: 0.00000288 AC XY: 2AN XY: 694758
GnomAD4 genome AF: 0.000132 AC: 20AN: 151980Hom.: 0 Cov.: 32 AF XY: 0.000148 AC XY: 11AN XY: 74242
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.812C>T (p.T271I) alteration is located in exon 11 (coding exon 9) of the ORC2 gene. This alteration results from a C to T substitution at nucleotide position 812, causing the threonine (T) at amino acid position 271 to be replaced by an isoleucine (I). 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