NM_016233.2:c.13A>C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_016233.2(PADI3):āc.13A>Cā(p.Arg5Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0833 in 1,613,938 control chromosomes in the GnomAD database, including 6,665 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_016233.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0715 AC: 10876AN: 152124Hom.: 472 Cov.: 32
GnomAD3 exomes AF: 0.0972 AC: 24445AN: 251410Hom.: 1548 AF XY: 0.102 AC XY: 13811AN XY: 135878
GnomAD4 exome AF: 0.0845 AC: 123556AN: 1461696Hom.: 6192 Cov.: 31 AF XY: 0.0877 AC XY: 63800AN XY: 727168
GnomAD4 genome AF: 0.0715 AC: 10883AN: 152242Hom.: 473 Cov.: 32 AF XY: 0.0741 AC XY: 5518AN XY: 74434
ClinVar
Submissions by phenotype
PADI3-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at