Variant 7-95302632-G-GA details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1

The NM_000446.7(PON1):c.781-300_781-299insT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.2 in 146,736 control chromosomes in the GnomAD database, including 3,077 homozygotes. Variant has been reported in ClinVar as Benign (★).

Frequency

Genomes: 𝑓 0.20 ( 3077 hom., cov: 28)

Consequence

PON1
NM_000446.7 intron

Scores

Not classified

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: 0.0610

Variant links:

Genes affected

PON1 (HGNC:9204): (paraoxonase 1) This gene encodes a member of the paraoxonase family of enzymes and exhibits lactonase and ester hydrolase activity. Following synthesis in the kidney and liver, the enzyme is secreted into the circulation, where it binds to high density lipoprotein (HDL) particles and hydrolyzes thiolactones and xenobiotics, including paraoxon, a metabolite of the insecticide parathion. Polymorphisms in this gene may be associated with coronary artery disease and diabetic retinopathy. The gene is found in a cluster of three related paraoxonase genes on chromosome 7. [provided by RefSeq, Aug 2017]

PON1 links:

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -10 ACMG points.

BP6

Variant 7-95302632-G-GA is Benign according to our data. Variant chr7-95302632-G-GA is described in ClinVar as [Benign]. Clinvar id is 1247214.Status of the report is criteria_provided_single_submitter, 1 stars.

BA1

GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.422 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
PON1	NM_000446.7 linkuse as main transcript	c.781-300_781-299insT		intron_variant		ENST00000222381.8

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
PON1	ENST00000222381.8 linkuse as main transcript	c.781-300_781-299insT		intron_variant		1	NM_000446.7	P1
PON1	ENST00000433729.1 linkuse as main transcript	c.506-300_506-299insT		intron_variant, NMD_transcript_variant		3

Frequencies

GnomAD3 genomes

AF:

0.200

AC:

29352

AN:

146632

Hom.:

3071

Cov.:

show subpopulations

Gnomad AFR

AF:

0.276

Gnomad AMI

AF:

0.0253

Gnomad AMR

AF:

0.192

Gnomad ASJ

AF:

0.191

Gnomad EAS

AF:

0.437

Gnomad SAS

AF:

0.194

Gnomad FIN

AF:

0.137

Gnomad MID

AF:

0.123

Gnomad NFE

AF:

0.150

Gnomad OTH

AF:

0.200

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

GnomAD4 genome

AF:

0.200

AC:

29379

AN:

146736

Hom.:

3077

Cov.:

AF XY:

0.202

AC XY:

14394

AN XY:

71300

show subpopulations

Gnomad4 AFR

AF:

0.276

Gnomad4 AMR

AF:

0.191

Gnomad4 ASJ

AF:

0.191

Gnomad4 EAS

AF:

0.438

Gnomad4 SAS

AF:

0.195

Gnomad4 FIN

AF:

0.137

Gnomad4 NFE

AF:

0.150

Gnomad4 OTH

AF:

0.201

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

LINK: link

Submissions by phenotype

not provided

Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

Jun 20, 2021

- -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

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.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Submissions by phenotype

Computational scores

Splicing

Publications

LitVar

Other links and lift over