rs2526839

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_207421.4(PADI6):​c.963-1297A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.299 in 152,042 control chromosomes in the GnomAD database, including 7,132 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 0.30 ( 7132 hom., cov: 32)

Consequence

PADI6
NM_207421.4 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.464
Variant links:
Genes affected
PADI6 (HGNC:20449): (peptidyl arginine deiminase 6) This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.86).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.366 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE Protein UniProt
PADI6NM_207421.4 linkuse as main transcriptc.963-1297A>C intron_variant ENST00000619609.1 NP_997304.3 Q6TGC4

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Protein Appris UniProt
PADI6ENST00000619609.1 linkuse as main transcriptc.963-1297A>C intron_variant 1 NM_207421.4 ENSP00000483125.1 Q6TGC4

Frequencies

GnomAD3 genomes
AF:
0.299
AC:
45464
AN:
151920
Hom.:
7123
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.371
Gnomad AMI
AF:
0.338
Gnomad AMR
AF:
0.289
Gnomad ASJ
AF:
0.300
Gnomad EAS
AF:
0.351
Gnomad SAS
AF:
0.276
Gnomad FIN
AF:
0.181
Gnomad MID
AF:
0.417
Gnomad NFE
AF:
0.273
Gnomad OTH
AF:
0.323
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.299
AC:
45504
AN:
152042
Hom.:
7132
Cov.:
32
AF XY:
0.293
AC XY:
21809
AN XY:
74316
show subpopulations
Gnomad4 AFR
AF:
0.371
Gnomad4 AMR
AF:
0.288
Gnomad4 ASJ
AF:
0.300
Gnomad4 EAS
AF:
0.351
Gnomad4 SAS
AF:
0.274
Gnomad4 FIN
AF:
0.181
Gnomad4 NFE
AF:
0.272
Gnomad4 OTH
AF:
0.324
Alfa
AF:
0.258
Hom.:
2553
Bravo
AF:
0.315
Asia WGS
AF:
0.335
AC:
1165
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.86
CADD
Benign
3.0
DANN
Benign
0.59

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

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs2526839; hg19: chr1-17717312; API