rs12769643

Variant names:

• chr10-120510614-G-A
• rs12769643
• NM_001030059.3:c.166-3297G>A

Your query was ambiguous. Multiple possible variants found:

• chr10-120510614-G-A
• chr10-120510614-G-C
• chr10-120510614-G-T

Variant summary

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

The NM_001030059.3(PLPP4):​c.166-3297G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.426 in 151,938 control chromosomes in the GnomAD database, including 13,906 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 0.43 (13906 hom., cov: 32)
• Consequence: PLPP4 NM_001030059.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.26
• Publications: 0 publications found

Genes affected

PLPP4 (HGNC:23531): (phospholipid phosphatase 4) Enables diacylglycerol diphosphate phosphatase activity; identical protein binding activity; and phosphatidate phosphatase activity. Involved in phospholipid dephosphorylation and regulation of calcium ion import. Predicted to be located in plasma membrane. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.478 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
PLPP4	NM_001030059.3	c.166-3297G>A		intron_variant	Intron 2 of 6	ENST00000398250.6	NP_001025230.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
PLPP4	ENST00000398250.6	c.166-3297G>A		intron_variant	Intron 2 of 6	1	NM_001030059.3	ENSP00000381302.1
PLPP4	ENST00000369073.3	n.136-3297G>A		intron_variant	Intron 2 of 6	5

Frequencies

GnomAD3 genomes AF: 0.426 AC: 64717 AN: 151820 Hom.: 13894 Cov.: 32

Gnomad AFR AF: 0.376

Gnomad AMI AF: 0.345

Gnomad AMR AF: 0.465

Gnomad ASJ AF: 0.475

Gnomad EAS AF: 0.493

Gnomad SAS AF: 0.339

Gnomad FIN AF: 0.472

Gnomad MID AF: 0.424

Gnomad NFE AF: 0.441

Gnomad OTH AF: 0.435

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

GnomAD4 genome AF: 0.426 AC: 64778 AN: 151938 Hom.: 13906 Cov.: 32 AF XY: 0.426 AC XY: 31610 AN XY: 74252

African (AFR) AF: 0.375 AC: 15545 AN: 41412

American (AMR) AF: 0.466 AC: 7117 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.475 AC: 1646 AN: 3466

East Asian (EAS) AF: 0.494 AC: 2543 AN: 5150

South Asian (SAS) AF: 0.341 AC: 1646 AN: 4822

European-Finnish (FIN) AF: 0.472 AC: 4980 AN: 10544

Middle Eastern (MID) AF: 0.422 AC: 124 AN: 294

European-Non Finnish (NFE) AF: 0.441 AC: 29943 AN: 67962

Other (OTH) AF: 0.436 AC: 920 AN: 2108

Alfa AF: 0.432 Hom.: 17929

Bravo AF: 0.426

Asia WGS AF: 0.395 AC: 1373 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	0.075
DANN	Benign	0.71
PhyloP100		-1.3
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: rs12769643; hg19: chr10-122270126;