1-17270264-T-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_016233.2(PADI3):c.684T>A(p.His228Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000174 in 1,613,574 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016233.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PADI3 | NM_016233.2 | c.684T>A | p.His228Gln | missense_variant | 7/16 | ENST00000375460.3 | |
PADI3 | XM_011541571.3 | c.570T>A | p.His190Gln | missense_variant | 7/16 | ||
PADI3 | XM_017001463.2 | c.147T>A | p.His49Gln | missense_variant | 4/13 | ||
PADI3 | XM_011541572.3 | c.684T>A | p.His228Gln | missense_variant | 7/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PADI3 | ENST00000375460.3 | c.684T>A | p.His228Gln | missense_variant | 7/16 | 1 | NM_016233.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000395 AC: 6AN: 152056Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000112 AC: 28AN: 250752Hom.: 0 AF XY: 0.0000812 AC XY: 11AN XY: 135456
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461518Hom.: 0 Cov.: 31 AF XY: 0.0000138 AC XY: 10AN XY: 727066
GnomAD4 genome ? AF: 0.0000395 AC: 6AN: 152056Hom.: 0 Cov.: 31 AF XY: 0.0000269 AC XY: 2AN XY: 74266
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 10, 2023 | The c.684T>A (p.H228Q) alteration is located in exon 7 (coding exon 7) of the PADI3 gene. This alteration results from a T to A substitution at nucleotide position 684, causing the histidine (H) at amino acid position 228 to be replaced by a glutamine (Q). 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