rs563112904

Positions:

• chr15-42086199-A-C

Variant summary

Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_Strong BP6_Moderate

The NM_178034.4(PLA2G4D):​c.387+14T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

• Frequency:
  • Genomes: 𝑓 0.37 (0 hom., cov: 0)
  • Exomes 𝑓: 0.42 (2127 hom.)
  • Failed GnomAD Quality Control
• Consequence: PLA2G4D NM_178034.4 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: 0.436

Genes affected

PLA2G4D (HGNC:30038): (phospholipase A2 group IVD) The phospholipase A2 enzyme family, including PLA2G4D, catalyze the hydrolysis of glycerophospholipids at the sn-2 position and then liberate free fatty acids and lysophospholipids (Chiba et al., 2004 [PubMed 14709560]).[supplied by OMIM, Jun 2009]

ACMG classification

Verdict is Likely_benign. Variant got -6 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.77).
• BP6: Variant 15-42086199-A-C is Benign according to our data. Variant chr15-42086199-A-C is described in ClinVar as [Benign]. Clinvar id is 403315.Status of the report is criteria_provided_single_submitter, 1 stars.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
PLA2G4D	NM_178034.4	c.387+14T>G		intron_variant		ENST00000290472.4	NP_828848.3
PLA2G4D	XM_047432399.1	c.387+14T>G		intron_variant			XP_047288355.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
PLA2G4D	ENST00000290472.4	c.387+14T>G		intron_variant		1	NM_178034.4	ENSP00000290472	P1

Frequencies

GnomAD3 genomes AF: 0.00 AC: 21101 AN: 56670 Hom.: 0 Cov.: 0 FAILED QC

Gnomad AFR AF: 0.358

Gnomad AMI AF: 0.405

Gnomad AMR AF: 0.307

Gnomad ASJ AF: 0.412

Gnomad EAS AF: 0.348

Gnomad SAS AF: 0.341

Gnomad FIN AF: 0.176

Gnomad MID AF: 0.324

Gnomad NFE AF: 0.415

Gnomad OTH AF: 0.373

GnomAD3 exomes AF: 0.471 AC: 27614 AN: 58584 Hom.: 552 AF XY: 0.475 AC XY: 15374 AN XY: 32392

Gnomad AFR exome AF: 0.429

Gnomad AMR exome AF: 0.488

Gnomad ASJ exome AF: 0.496

Gnomad EAS exome AF: 0.408

Gnomad SAS exome AF: 0.491

Gnomad FIN exome AF: 0.482

Gnomad NFE exome AF: 0.468

Gnomad OTH exome AF: 0.470

GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.424 AC: 69095 AN: 162910 Hom.: 2127 Cov.: 0 AF XY: 0.431 AC XY: 38297 AN XY: 88826

Gnomad4 AFR exome AF: 0.419

Gnomad4 AMR exome AF: 0.543

Gnomad4 ASJ exome AF: 0.496

Gnomad4 EAS exome AF: 0.419

Gnomad4 SAS exome AF: 0.472

Gnomad4 FIN exome AF: 0.476

Gnomad4 NFE exome AF: 0.388

Gnomad4 OTH exome AF: 0.429

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR;InbreedingCoeff AF: 0.372 AC: 21104 AN: 56690 Hom.: 0 Cov.: 0 AF XY: 0.351 AC XY: 9251 AN XY: 26354

Gnomad4 AFR AF: 0.358

Gnomad4 AMR AF: 0.306

Gnomad4 ASJ AF: 0.412

Gnomad4 EAS AF: 0.349

Gnomad4 SAS AF: 0.339

Gnomad4 FIN AF: 0.176

Gnomad4 NFE AF: 0.415

Gnomad4 OTH AF: 0.372

Alfa AF: 0.0188 Hom.: 0

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not specified Benign:1

Benign, criteria provided, single submitter

clinical testing

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Mar 29, 2016

Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency -

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.77
CADD	Benign	15
DANN	Benign	0.71

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.010		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: rs563112904; hg19: chr15-42378397;