rs12089685
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_012387.3(PADI4):c.409-53T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00312 in 997,606 control chromosomes in the GnomAD database, including 60 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.012 ( 35 hom., cov: 32)
Exomes 𝑓: 0.0015 ( 25 hom. )
Consequence
PADI4
NM_012387.3 intron
NM_012387.3 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -3.82
Genes affected
PADI4 (HGNC:18368): (peptidyl arginine deiminase 4) This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage development leading to inflammation and immune response. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.9).
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.0122 (1854/152074) while in subpopulation AFR AF= 0.0414 (1720/41500). AF 95% confidence interval is 0.0398. There are 35 homozygotes in gnomad4. There are 877 alleles in male gnomad4 subpopulation. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 35 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PADI4 | NM_012387.3 | c.409-53T>C | intron_variant | ENST00000375448.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PADI4 | ENST00000375448.4 | c.409-53T>C | intron_variant | 1 | NM_012387.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0122 AC: 1854AN: 151956Hom.: 35 Cov.: 32
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GnomAD4 exome AF: 0.00149 AC: 1257AN: 845532Hom.: 25 AF XY: 0.00128 AC XY: 570AN XY: 443994
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GnomAD4 genome ? AF: 0.0122 AC: 1854AN: 152074Hom.: 35 Cov.: 32 AF XY: 0.0118 AC XY: 877AN XY: 74366
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3478
ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at