chr6-87612222-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_012381.4(ORC3):c.847G>A(p.Glu283Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,458,670 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_012381.4 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 | UniProt |
---|---|---|---|---|---|---|---|
ORC3 | NM_012381.4 | c.847G>A | p.Glu283Lys | missense_variant | 8/20 | ENST00000392844.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ORC3 | ENST00000392844.8 | c.847G>A | p.Glu283Lys | missense_variant | 8/20 | 1 | NM_012381.4 | A1 | |
ORC3 | ENST00000257789.4 | c.847G>A | p.Glu283Lys | missense_variant | 8/20 | 1 | P4 | ||
ORC3 | ENST00000546266.5 | c.418G>A | p.Glu140Lys | missense_variant | 7/19 | 2 | |||
ORC3 | ENST00000681069.1 | n.880G>A | non_coding_transcript_exon_variant | 8/15 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1458670Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 725456
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 16, 2024 | The c.847G>A (p.E283K) alteration is located in exon 8 (coding exon 8) of the ORC3 gene. This alteration results from a G to A substitution at nucleotide position 847, causing the glutamic acid (E) at amino acid position 283 to be replaced by a lysine (K). 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
Publications
No publications associated with this variant yet.