6-46714163-T-G

Variant names:

• chr6-46714163-T-G
• rs6899519
• NM_005084.4:c.470+297A>C

Variant summary

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

The NM_005084.4(PLA2G7):​c.470+297A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.286 in 152,066 control chromosomes in the GnomAD database, including 6,393 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 0.29 (6393 hom., cov: 32)
• Consequence: PLA2G7 NM_005084.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.909
• Publications: 5 publications found

Genes affected

PLA2G7 (HGNC:9040): (phospholipase A2 group VII) The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.496 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_005084.4. 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
	PLA2G7	NM_005084.4	MANE Select	c.470+297A>C		intron	N/A	NP_005075.3
	PLA2G7	NM_001168357.2		c.470+297A>C		intron	N/A	NP_001161829.1	Q13093

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PLA2G7	ENST00000274793.12	TSL:1 MANE Select	c.470+297A>C		intron	N/A	ENSP00000274793.7	Q13093
	PLA2G7	ENST00000537365.1	TSL:1	c.470+297A>C		intron	N/A	ENSP00000445666.1	Q13093
	PLA2G7	ENST00000878321.1		c.470+297A>C		intron	N/A	ENSP00000548380.1

Frequencies

GnomAD3 genomes AF: 0.286 AC: 43509 AN: 151948 Hom.: 6395 Cov.: 32

Gnomad AFR AF: 0.292

Gnomad AMI AF: 0.284

Gnomad AMR AF: 0.343

Gnomad ASJ AF: 0.332

Gnomad EAS AF: 0.206

Gnomad SAS AF: 0.513

Gnomad FIN AF: 0.285

Gnomad MID AF: 0.339

Gnomad NFE AF: 0.257

Gnomad OTH AF: 0.299

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

GnomAD4 genome AF: 0.286 AC: 43541 AN: 152066 Hom.: 6393 Cov.: 32 AF XY: 0.290 AC XY: 21559 AN XY: 74328

African (AFR) AF: 0.292 AC: 12101 AN: 41458

American (AMR) AF: 0.344 AC: 5250 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.332 AC: 1153 AN: 3470

East Asian (EAS) AF: 0.206 AC: 1065 AN: 5176

South Asian (SAS) AF: 0.513 AC: 2471 AN: 4816

European-Finnish (FIN) AF: 0.285 AC: 3013 AN: 10558

Middle Eastern (MID) AF: 0.330 AC: 97 AN: 294

European-Non Finnish (NFE) AF: 0.257 AC: 17493 AN: 67988

Other (OTH) AF: 0.302 AC: 639 AN: 2114

Alfa AF: 0.164 Hom.: 342

Bravo AF: 0.283

Asia WGS AF: 0.376 AC: 1305 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	0.27
DANN	Benign	0.58
PhyloP100		-0.91
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: rs6899519; hg19: chr6-46681900;