rs3800327

Variant names:

• chr6-28297151-G-C
• rs3800327
• NM_032507.4:c.772+206G>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.772+206G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.117 in 152,196 control chromosomes in the GnomAD database, including 1,642 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 0.12 (1642 hom., cov: 32)
• Consequence: PGBD1 NM_032507.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0650
• Publications: 5 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=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.358 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

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PGBD1	NM_032507.4	MANE Select	c.772+206G>C		intron	N/A	NP_115896.1
	PGBD1	NM_001184743.2		c.772+206G>C		intron	N/A	NP_001171672.1
	PGBD1	NM_001386059.1		c.772+206G>C		intron	N/A	NP_001372988.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	PGBD1	ENST00000682144.1	MANE Select	c.772+206G>C		intron	N/A	ENSP00000506997.1
	PGBD1	ENST00000259883.3	TSL:1	c.772+206G>C		intron	N/A	ENSP00000259883.3
	PGBD1	ENST00000918204.1		c.772+206G>C		intron	N/A	ENSP00000588263.1

Frequencies

GnomAD3 genomes AF: 0.117 AC: 17727 AN: 152078 Hom.: 1638 Cov.: 32

Gnomad AFR AF: 0.216

Gnomad AMI AF: 0.0626

Gnomad AMR AF: 0.130

Gnomad ASJ AF: 0.0637

Gnomad EAS AF: 0.373

Gnomad SAS AF: 0.160

Gnomad FIN AF: 0.0481

Gnomad MID AF: 0.117

Gnomad NFE AF: 0.0451

Gnomad OTH AF: 0.105

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

GnomAD4 genome AF: 0.117 AC: 17768 AN: 152196 Hom.: 1642 Cov.: 32 AF XY: 0.119 AC XY: 8853 AN XY: 74424

African (AFR) AF: 0.216 AC: 8956 AN: 41488

American (AMR) AF: 0.130 AC: 1993 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.0637 AC: 221 AN: 3470

East Asian (EAS) AF: 0.372 AC: 1926 AN: 5176

South Asian (SAS) AF: 0.163 AC: 784 AN: 4824

European-Finnish (FIN) AF: 0.0481 AC: 510 AN: 10610

Middle Eastern (MID) AF: 0.126 AC: 37 AN: 294

European-Non Finnish (NFE) AF: 0.0451 AC: 3065 AN: 68014

Other (OTH) AF: 0.103 AC: 219 AN: 2116

Alfa AF: 0.0801 Hom.: 110

Bravo AF: 0.129

Asia WGS AF: 0.168 AC: 582 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	3.4
DANN	Benign	0.72
PhyloP100		0.065
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: rs3800327; hg19: chr6-28264928;