1-17356837-T-C

Position:

• chr1-17356837-T-C

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong

The NM_012387.3(PADI4):​c.1558+378T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. 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 0.73 (37313 hom., cov: 26)
  • Failed GnomAD Quality Control
• Consequence: PADI4 NM_012387.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.384

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]

PADI4 (HGNC:):

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
PADI4	NM_012387.3	c.1558+378T>C		intron_variant		ENST00000375448.4	NP_036519.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
PADI4	ENST00000375448.4	c.1558+378T>C		intron_variant		1	NM_012387.3	ENSP00000364597.4
PADI4	ENST00000467001.1	n.459+378T>C		intron_variant		5

Frequencies

GnomAD3 genomes AF: 0.00 AC: 105517 AN: 144098 Hom.: 37288 Cov.: 26 FAILED QC

Gnomad AFR AF: 0.755

Gnomad AMI AF: 0.785

Gnomad AMR AF: 0.694

Gnomad ASJ AF: 0.841

Gnomad EAS AF: 0.787

Gnomad SAS AF: 0.702

Gnomad FIN AF: 0.687

Gnomad MID AF: 0.774

Gnomad NFE AF: 0.724

Gnomad OTH AF: 0.751

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.732 AC: 105585 AN: 144200 Hom.: 37313 Cov.: 26 AF XY: 0.728 AC XY: 51033 AN XY: 70084

Gnomad4 AFR AF: 0.755

Gnomad4 AMR AF: 0.694

Gnomad4 ASJ AF: 0.841

Gnomad4 EAS AF: 0.788

Gnomad4 SAS AF: 0.701

Gnomad4 FIN AF: 0.687

Gnomad4 NFE AF: 0.724

Gnomad4 OTH AF: 0.749

Alfa AF: 0.636 Hom.: 1702

Bravo AF: 0.707

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.19
DANN	Benign	0.26

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs1635565; hg19: chr1-17683332; COSMIC: COSV64923615; COSMIC: COSV64923615;