16-30006206-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003586.3(DOC2A):c.1183G>A(p.Gly395Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000681 in 1,585,406 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003586.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152110Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000350 AC: 7AN: 199764Hom.: 0 AF XY: 0.0000276 AC XY: 3AN XY: 108678
GnomAD4 exome AF: 0.0000719 AC: 103AN: 1433296Hom.: 0 Cov.: 31 AF XY: 0.0000760 AC XY: 54AN XY: 710816
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152110Hom.: 0 Cov.: 31 AF XY: 0.0000404 AC XY: 3AN XY: 74316
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1183G>A (p.G395R) alteration is located in exon 11 (coding exon 10) of the DOC2A gene. This alteration results from a G to A substitution at nucleotide position 1183, causing the glycine (G) at amino acid position 395 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