rs7176475

Variant names:

• chr15-42044519-G-T
• rs7176475
• NM_001206670.1:c.183+6002C>A

Variant summary

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

The NM_001206670.1(PLA2G4E):​c.183+6002C>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0866 in 151,718 control chromosomes in the GnomAD database, including 594 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 0.087 (594 hom., cov: 28)
• Consequence: PLA2G4E NM_001206670.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.276
• Publications: 2 publications found

Genes affected

PLA2G4E (HGNC:24791): (phospholipase A2 group IVE) This gene encodes a member of the cytosolic phospholipase A2 group IV family. Members of this family are involved in regulation of membrane tubule-mediated transport. The enzyme encoded by this member of the family plays a role in trafficking through the clathrin-independent endocytic pathway. The enzyme regulates the recycling process via formation of tubules that transport internalized clathrin-independent cargo proteins back to the cell surface. [provided by RefSeq, Jan 2017]

LOC105370793 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.122 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001206670.1. 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
	PLA2G4E	NM_001206670.1		c.183+6002C>A		intron	N/A	NP_001193599.1	Q3MJ16-3

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PLA2G4E	ENST00000399518.3	TSL:5	c.183+6002C>A		intron	N/A	ENSP00000382434.3	Q3MJ16-3
	PLA2G4E	ENST00000696117.1		n.-17+5021C>A		intron	N/A	ENSP00000512411.1	A0A8Q3SIG9

Frequencies

GnomAD3 genomes AF: 0.0866 AC: 13133 AN: 151600 Hom.: 594 Cov.: 28

Gnomad AFR AF: 0.119

Gnomad AMI AF: 0.100

Gnomad AMR AF: 0.0755

Gnomad ASJ AF: 0.110

Gnomad EAS AF: 0.102

Gnomad SAS AF: 0.131

Gnomad FIN AF: 0.0709

Gnomad MID AF: 0.0918

Gnomad NFE AF: 0.0657

Gnomad OTH AF: 0.101

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

GnomAD4 genome AF: 0.0866 AC: 13142 AN: 151718 Hom.: 594 Cov.: 28 AF XY: 0.0872 AC XY: 6458 AN XY: 74088

African (AFR) AF: 0.119 AC: 4922 AN: 41276

American (AMR) AF: 0.0754 AC: 1151 AN: 15260

Ashkenazi Jewish (ASJ) AF: 0.110 AC: 380 AN: 3466

East Asian (EAS) AF: 0.102 AC: 524 AN: 5138

South Asian (SAS) AF: 0.130 AC: 624 AN: 4798

European-Finnish (FIN) AF: 0.0709 AC: 747 AN: 10532

Middle Eastern (MID) AF: 0.105 AC: 31 AN: 294

European-Non Finnish (NFE) AF: 0.0657 AC: 4461 AN: 67942

Other (OTH) AF: 0.100 AC: 211 AN: 2104

Alfa AF: 0.0752 Hom.: 826

Bravo AF: 0.0871

Asia WGS AF: 0.0950 AC: 331 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.59
DANN	Benign	0.39
PhyloP100		-0.28
Mutation Taster		=100/0	polymorphism (auto)

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

Other links and lift over

dbSNP: rs7176475; hg19: chr15-42336717;