rs912767

chr1-173487306-A-Gchr1-173487306-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_004905.3(PRDX6):c.547-429A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.211 in 152,152 control chromosomes in the GnomAD database, including 3,577 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 0.21 (3577 hom., cov: 32)
• Consequence: PRDX6 NM_004905.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.718

Genes affected

PRDX6 (HGNC:16753): (peroxiredoxin 6) The protein encoded by this gene is a member of the thiol-specific antioxidant protein family. This protein is a bifunctional enzyme with two distinct active sites. It is involved in redox regulation of the cell; it can reduce H(2)O(2) and short chain organic, fatty acid, and phospholipid hydroperoxides. It may play a role in the regulation of phospholipid turnover as well as in protection against oxidative injury. [provided by RefSeq, Jul 2008]

PRDX6-AS1 (HGNC:54870): (PRDX6 antisense RNA 1)

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.3 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
PRDX6	NM_004905.3	c.547-429A>G		intron_variant		ENST00000340385.6

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
PRDX6	ENST00000340385.6	c.547-429A>G		intron_variant		1	NM_004905.3	P1
PRDX6-AS1	ENST00000669220.1	n.117+1985T>C		intron_variant, non_coding_transcript_variant
PRDX6	ENST00000470017.1	n.579-429A>G		intron_variant, non_coding_transcript_variant		2

Frequencies

GnomAD3 genomes AF: 0.210 AC: 31978 AN: 152032 Hom.: 3567 Cov.: 32

Gnomad AFR AF: 0.266

Gnomad AMI AF: 0.218

Gnomad AMR AF: 0.188

Gnomad ASJ AF: 0.305

Gnomad EAS AF: 0.313

Gnomad SAS AF: 0.117

Gnomad FIN AF: 0.135

Gnomad MID AF: 0.256

Gnomad NFE AF: 0.187

Gnomad OTH AF: 0.208

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

GnomAD4 genome AF: 0.211 AC: 32036 AN: 152152 Hom.: 3577 Cov.: 32 AF XY: 0.208 AC XY: 15488 AN XY: 74392

Gnomad4 AFR AF: 0.266

Gnomad4 AMR AF: 0.188

Gnomad4 ASJ AF: 0.305

Gnomad4 EAS AF: 0.313

Gnomad4 SAS AF: 0.117

Gnomad4 FIN AF: 0.135

Gnomad4 NFE AF: 0.187

Gnomad4 OTH AF: 0.208

Alfa AF: 0.200 Hom.: 498

Bravo AF: 0.220

Asia WGS AF: 0.210 AC: 728 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
Cadd	Benign	2.4
Dann	Benign	0.78

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: rs912767; hg19: chr1-173456445;