rs4751996

Variant names:

• chr10-116638383-A-G
• rs4751996
• ENST00000579578.6:c.1081A>G
• PNLIPRP2 p.Ile361Val

Your query was ambiguous. Multiple possible variants found:

• chr10-116638383-A-G
• chr10-116638383-A-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000579578.6(PNLIPRP2):​c.1081A>G​(p.Ile361Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.48 in 1,259,318 control chromosomes in the GnomAD database, including 147,816 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/15 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as (no stars).

• Frequency:
  • Genomes: 𝑓 0.55 (22965 hom., cov: 31)
  • Exomes 𝑓: 0.47 (124851 hom.)
• Consequence: PNLIPRP2 ENST00000579578.6 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.54
• Publications: 17 publications found

Genes affected

PNLIPRP2 (HGNC:9157): (pancreatic lipase related protein 2 (gene/pseudogene)) This gene encodes a lipase that hydrolyzes galactolipids, the main components of plant membrane lipids. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the non-coding allele. [provided by RefSeq, Aug 2015]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (MetaRNN=1.4504615E-5).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.614 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000579578.6. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PNLIPRP2	NR_103727.2		n.1107A>G		non_coding_transcript_exon	Exon 11 of 13

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PNLIPRP2	ENST00000579578.6	TSL:2	c.1081A>G	p.Ile361Val	missense	Exon 11 of 13	ENSP00000463502.4

Frequencies

GnomAD3 genomes AF: 0.546 AC: 82720 AN: 151614 Hom.: 22923 Cov.: 31

Gnomad AFR AF: 0.620

Gnomad AMI AF: 0.603

Gnomad AMR AF: 0.540

Gnomad ASJ AF: 0.493

Gnomad EAS AF: 0.275

Gnomad SAS AF: 0.406

Gnomad FIN AF: 0.635

Gnomad MID AF: 0.481

Gnomad NFE AF: 0.521

Gnomad OTH AF: 0.528

GnomAD2 exomes AF: 0.492 AC: 82987 AN: 168656 AF XY: 0.486

Gnomad AFR exome AF: 0.614

Gnomad AMR exome AF: 0.487

Gnomad ASJ exome AF: 0.501

Gnomad EAS exome AF: 0.248

Gnomad FIN exome AF: 0.630

Gnomad NFE exome AF: 0.509

Gnomad OTH exome AF: 0.497

GnomAD4 exome AF: 0.471 AC: 521727 AN: 1107586 Hom.: 124851 Cov.: 15 AF XY: 0.471 AC XY: 263591 AN XY: 559470

African (AFR) AF: 0.598 AC: 15645 AN: 26178

American (AMR) AF: 0.493 AC: 17323 AN: 35130

Ashkenazi Jewish (ASJ) AF: 0.492 AC: 11351 AN: 23088

East Asian (EAS) AF: 0.266 AC: 9636 AN: 36244

South Asian (SAS) AF: 0.405 AC: 29581 AN: 73048

European-Finnish (FIN) AF: 0.626 AC: 31220 AN: 49910

Middle Eastern (MID) AF: 0.485 AC: 2501 AN: 5162

European-Non Finnish (NFE) AF: 0.471 AC: 381322 AN: 810424

Other (OTH) AF: 0.478 AC: 23148 AN: 48402

GnomAD4 genome AF: 0.546 AC: 82827 AN: 151732 Hom.: 22965 Cov.: 31 AF XY: 0.548 AC XY: 40603 AN XY: 74146

African (AFR) AF: 0.621 AC: 25643 AN: 41306

American (AMR) AF: 0.540 AC: 8242 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.493 AC: 1712 AN: 3470

East Asian (EAS) AF: 0.276 AC: 1421 AN: 5154

South Asian (SAS) AF: 0.404 AC: 1943 AN: 4806

European-Finnish (FIN) AF: 0.635 AC: 6680 AN: 10522

Middle Eastern (MID) AF: 0.493 AC: 144 AN: 292

European-Non Finnish (NFE) AF: 0.521 AC: 35377 AN: 67900

Other (OTH) AF: 0.531 AC: 1119 AN: 2108

Alfa AF: 0.531 Hom.: 21097

Bravo AF: 0.543

Asia WGS AF: 0.443 AC: 1539 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.062
BayesDel_addAF	Benign	-0.50	T
BayesDel_noAF	Benign	-0.35
CADD	Benign	10
DANN	Benign	0.22
DEOGEN2	Benign	0.0018	T
Eigen	Benign	-0.59
Eigen_PC	Benign	-0.58
FATHMM_MKL	Benign	0.0070	N
LIST_S2	Benign	0.36	T
MetaRNN	Benign	0.000015	T
MetaSVM	Benign	-0.94	T
PhyloP100		1.5
PrimateAI	Benign	0.36	T
Varity_R		0.030

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.030		Details are displayed if max score is > 0.2

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs4751996;

hg19: chr10-118397894;

COSMIC: COSV53945253;

COSMIC: COSV53945253;