NM_001144382.2:c.327+44080A>G

Variant names:

• chr3-16929446-A-G
• rs9821630
• NM_001144382.2:c.327+44080A>G

Variant summary

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

The NM_001144382.2(PLCL2):​c.327+44080A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.241 in 152,096 control chromosomes in the GnomAD database, including 5,342 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 0.24 (5342 hom., cov: 31)
• Consequence: PLCL2 NM_001144382.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0870
• Publications: 26 publications found

Genes affected

PLCL2 (HGNC:9064): (phospholipase C like 2) Enables GABA receptor binding activity. Predicted to be involved in negative regulation of cold-induced thermogenesis and phosphatidylinositol-mediated signaling. Predicted to act upstream of or within several processes, including B cell activation; gamma-aminobutyric acid signaling pathway; and negative regulation of B cell receptor signaling pathway. Predicted to be located in cytoplasm. [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=-0.86).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.53 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001144382.2. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PLCL2	NM_001144382.2	MANE Select	c.327+44080A>G		intron	N/A	NP_001137854.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PLCL2	ENST00000615277.5	TSL:1 MANE Select	c.327+44080A>G		intron	N/A	ENSP00000478458.1
	PLCL2	ENST00000460467.1	TSL:1	n.439-80228A>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.241 AC: 36644 AN: 151978 Hom.: 5343 Cov.: 31

Gnomad AFR AF: 0.0915

Gnomad AMI AF: 0.391

Gnomad AMR AF: 0.238

Gnomad ASJ AF: 0.250

Gnomad EAS AF: 0.547

Gnomad SAS AF: 0.313

Gnomad FIN AF: 0.393

Gnomad MID AF: 0.146

Gnomad NFE AF: 0.279

Gnomad OTH AF: 0.248

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

GnomAD4 genome AF: 0.241 AC: 36648 AN: 152096 Hom.: 5342 Cov.: 31 AF XY: 0.248 AC XY: 18434 AN XY: 74332

African (AFR) AF: 0.0914 AC: 3795 AN: 41514

American (AMR) AF: 0.239 AC: 3649 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.250 AC: 868 AN: 3472

East Asian (EAS) AF: 0.546 AC: 2822 AN: 5164

South Asian (SAS) AF: 0.313 AC: 1507 AN: 4814

European-Finnish (FIN) AF: 0.393 AC: 4152 AN: 10560

Middle Eastern (MID) AF: 0.154 AC: 45 AN: 292

European-Non Finnish (NFE) AF: 0.279 AC: 18933 AN: 67982

Other (OTH) AF: 0.247 AC: 520 AN: 2108

Alfa AF: 0.249 Hom.: 5687

Bravo AF: 0.224

Asia WGS AF: 0.363 AC: 1261 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	2.3
DANN	Benign	0.56
PhyloP100		-0.087
Mutation Taster		=100/0	polymorphism (auto)

Splicing

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

Other links and lift over

dbSNP: rs9821630; hg19: chr3-16970938;