6-28298372-T-C

Variant names:

• chr6-28298372-T-C
• rs2142730
• NM_032507.4:c.869+381T>C

Variant summary

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

The NM_032507.4(PGBD1):​c.869+381T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.527 in 151,588 control chromosomes in the GnomAD database, including 24,482 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 0.53 (24482 hom., cov: 29)
• Consequence: PGBD1 NM_032507.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.485
• Publications: 18 publications found

Genes affected

PGBD1 (HGNC:19398): (piggyBac transposable element derived 1) The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. This gene product is specifically expressed in the brain, however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2010]

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.842 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_032507.4. 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
	PGBD1	NM_032507.4	MANE Select	c.869+381T>C		intron	N/A	NP_115896.1	Q96JS3
	PGBD1	NM_001184743.2		c.869+381T>C		intron	N/A	NP_001171672.1	Q96JS3
	PGBD1	NM_001386059.1		c.869+381T>C		intron	N/A	NP_001372988.1	Q96JS3

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PGBD1	ENST00000682144.1	MANE Select	c.869+381T>C		intron	N/A	ENSP00000506997.1	Q96JS3
	PGBD1	ENST00000259883.3	TSL:1	c.869+381T>C		intron	N/A	ENSP00000259883.3	Q96JS3
	PGBD1	ENST00000918204.1		c.869+381T>C		intron	N/A	ENSP00000588263.1

Frequencies

GnomAD3 genomes AF: 0.527 AC: 79792 AN: 151470 Hom.: 24419 Cov.: 29

Gnomad AFR AF: 0.849

Gnomad AMI AF: 0.408

Gnomad AMR AF: 0.505

Gnomad ASJ AF: 0.446

Gnomad EAS AF: 0.596

Gnomad SAS AF: 0.520

Gnomad FIN AF: 0.324

Gnomad MID AF: 0.433

Gnomad NFE AF: 0.368

Gnomad OTH AF: 0.537

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

GnomAD4 genome AF: 0.527 AC: 79915 AN: 151588 Hom.: 24482 Cov.: 29 AF XY: 0.524 AC XY: 38808 AN XY: 74024

African (AFR) AF: 0.849 AC: 35145 AN: 41384

American (AMR) AF: 0.505 AC: 7686 AN: 15224

Ashkenazi Jewish (ASJ) AF: 0.446 AC: 1546 AN: 3466

East Asian (EAS) AF: 0.596 AC: 3044 AN: 5104

South Asian (SAS) AF: 0.522 AC: 2504 AN: 4796

European-Finnish (FIN) AF: 0.324 AC: 3393 AN: 10468

Middle Eastern (MID) AF: 0.438 AC: 128 AN: 292

European-Non Finnish (NFE) AF: 0.368 AC: 24980 AN: 67840

Other (OTH) AF: 0.531 AC: 1117 AN: 2102

Alfa AF: 0.426 Hom.: 22011

Bravo AF: 0.558

Asia WGS AF: 0.512 AC: 1780 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	6.2
DANN	Benign	0.83
PhyloP100		-0.48
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: rs2142730; hg19: chr6-28266149;