chr2-147939241-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_181741.4(ORC4):c.857C>T(p.Ala286Val) variant causes a missense change. The variant allele was found at a frequency of 0.00437 in 1,606,638 control chromosomes in the GnomAD database, including 23 homozygotes. 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 Likely benign (★★).
Frequency
Consequence
NM_181741.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00302 AC: 459AN: 152116Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00320 AC: 804AN: 250942Hom.: 2 AF XY: 0.00345 AC XY: 468AN XY: 135606
GnomAD4 exome AF: 0.00452 AC: 6568AN: 1454404Hom.: 23 Cov.: 28 AF XY: 0.00452 AC XY: 3269AN XY: 724008
GnomAD4 genome AF: 0.00302 AC: 459AN: 152234Hom.: 0 Cov.: 32 AF XY: 0.00254 AC XY: 189AN XY: 74434
ClinVar
Submissions by phenotype
not provided Benign:3
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ORC4: BP4, BS2 -
This variant is associated with the following publications: (PMID: 27884173, 20010161) -
not specified Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at