chr4-48885525-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001014446.3(OCIAD2):c.424G>A(p.Gly142Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000514 in 1,611,880 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_001014446.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000420 AC: 64AN: 152200Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000549 AC: 138AN: 251204Hom.: 0 AF XY: 0.000552 AC XY: 75AN XY: 135770
GnomAD4 exome AF: 0.000523 AC: 764AN: 1459680Hom.: 0 Cov.: 28 AF XY: 0.000519 AC XY: 377AN XY: 726346
GnomAD4 genome AF: 0.000420 AC: 64AN: 152200Hom.: 0 Cov.: 33 AF XY: 0.000363 AC XY: 27AN XY: 74356
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.424G>A (p.G142R) alteration is located in exon 7 (coding exon 6) of the OCIAD2 gene. This alteration results from a G to A substitution at nucleotide position 424, causing the glycine (G) at amino acid position 142 to be replaced by an arginine (R). 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