rs7962508

Positions:

• chr12-3538926-G-A
• chr12-3538926-G-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_019854.5(PRMT8):​c.76-1680G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.803 in 152,124 control chromosomes in the GnomAD database, including 49,589 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 0.80 (49589 hom., cov: 32)
• Consequence: PRMT8 NM_019854.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.88

Genes affected

PRMT8 (HGNC:5188): (protein arginine methyltransferase 8) Arginine methylation is a widespread posttranslational modification mediated by arginine methyltransferases, such as PRMT8. Arginine methylation is involved in a number of cellular processes, including DNA repair, RNA transcription, signal transduction, protein compartmentalization, and possibly protein translation (Lee et al., 2005 [PubMed 16051612]).[supplied by OMIM, Mar 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.5).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.918 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
PRMT8	NM_019854.5	c.76-1680G>A		intron_variant		ENST00000382622.4	NP_062828.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
PRMT8	ENST00000382622.4	c.76-1680G>A		intron_variant		1	NM_019854.5	ENSP00000372067	P1
PRMT8	ENST00000452611.6	c.49-1680G>A		intron_variant		1		ENSP00000414507
PRMT8	ENST00000261252.4	n.494+219G>A		intron_variant, non_coding_transcript_variant		2
PRMT8	ENST00000543701.5	n.443-1680G>A		intron_variant, non_coding_transcript_variant		2

Frequencies

GnomAD3 genomes AF: 0.803 AC: 122068 AN: 152006 Hom.: 49561 Cov.: 32

Gnomad AFR AF: 0.682

Gnomad AMI AF: 0.865

Gnomad AMR AF: 0.884

Gnomad ASJ AF: 0.864

Gnomad EAS AF: 0.940

Gnomad SAS AF: 0.898

Gnomad FIN AF: 0.798

Gnomad MID AF: 0.883

Gnomad NFE AF: 0.837

Gnomad OTH AF: 0.827

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

GnomAD4 genome AF: 0.803 AC: 122150 AN: 152124 Hom.: 49589 Cov.: 32 AF XY: 0.806 AC XY: 59917 AN XY: 74372

Gnomad4 AFR AF: 0.682

Gnomad4 AMR AF: 0.884

Gnomad4 ASJ AF: 0.864

Gnomad4 EAS AF: 0.940

Gnomad4 SAS AF: 0.898

Gnomad4 FIN AF: 0.798

Gnomad4 NFE AF: 0.837

Gnomad4 OTH AF: 0.827

Alfa AF: 0.842 Hom.: 73384

Bravo AF: 0.806

Asia WGS AF: 0.888 AC: 3088 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.50
CADD	Benign	15
DANN	Benign	0.67

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

Publications

LitVar

Other links and lift over

dbSNP: rs7962508; hg19: chr12-3648092;