chr4-48897818-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001014446.3(OCIAD2):c.203G>A(p.Gly68Glu) variant causes a missense change. The variant allele was found at a frequency of 0.00000869 in 1,611,370 control chromosomes in the GnomAD database, with no homozygous occurrence. 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: 0.0000132 AC: 2AN: 152062Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000398 AC: 10AN: 251196Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135766
GnomAD4 exome AF: 0.00000822 AC: 12AN: 1459308Hom.: 0 Cov.: 29 AF XY: 0.00000689 AC XY: 5AN XY: 726178
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152062Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74262
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.203G>A (p.G68E) alteration is located in exon 4 (coding exon 3) of the OCIAD2 gene. This alteration results from a G to A substitution at nucleotide position 203, causing the glycine (G) at amino acid position 68 to be replaced by a glutamic acid (E). 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