16-20862474-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_173475.4(DCUN1D3):c.65G>A(p.Arg22His) variant causes a missense change. The variant allele was found at a frequency of 0.0000267 in 1,612,272 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_173475.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DCUN1D3 | ENST00000324344.9 | c.65G>A | p.Arg22His | missense_variant | Exon 2 of 3 | 1 | NM_173475.4 | ENSP00000319482.3 | ||
DCUN1D3 | ENST00000563934.1 | c.65G>A | p.Arg22His | missense_variant | Exon 2 of 3 | 5 | ENSP00000454762.1 | |||
ERI2 | ENST00000564349.5 | c.-257+33834G>A | intron_variant | Intron 2 of 9 | 2 | ENSP00000455982.1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000440 AC: 11AN: 250094Hom.: 0 AF XY: 0.0000592 AC XY: 8AN XY: 135244
GnomAD4 exome AF: 0.0000274 AC: 40AN: 1459972Hom.: 0 Cov.: 34 AF XY: 0.0000275 AC XY: 20AN XY: 726368
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152300Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74464
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.65G>A (p.R22H) alteration is located in exon 2 (coding exon 1) of the DCUN1D3 gene. This alteration results from a G to A substitution at nucleotide position 65, causing the arginine (R) at amino acid position 22 to be replaced by a histidine (H). 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