rs3785114

Positions:

• chr16-68338420-C-G
• chr16-68338420-C-T

Variant summary

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

The NM_019023.5(PRMT7):​c.504+849C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.785 in 151,614 control chromosomes in the GnomAD database, including 47,533 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 0.79 (47533 hom., cov: 28)
• Consequence: PRMT7 NM_019023.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.234

Genes affected

PRMT7 (HGNC:25557): (protein arginine methyltransferase 7) This gene encodes a member of the protein arginine N-methyltransferase family of proteins. The encoded enzyme transfers single methyl groups to arginine residues to generate monomethylarginines on histone proteins as well as other protein substrates. This enzyme plays a role in a wide range of biological processes, including neuronal differentiation, male germ line imprinting, small nuclear ribonucleoprotein biogenesis, and regulation of the Wnt signaling pathway. Mutations in this gene underlie multiple related syndromes in human patients characterized by intellectual disability, short stature and other features. The encoded protein may promote breast cancer cell invasion and metastasis in human patients. [provided by RefSeq, May 2017]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.934 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
PRMT7	NM_019023.5	c.504+849C>G		intron_variant		ENST00000441236.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
PRMT7	ENST00000441236.3	c.504+849C>G		intron_variant		1	NM_019023.5	P1

Frequencies

GnomAD3 genomes AF: 0.785 AC: 118931 AN: 151496 Hom.: 47464 Cov.: 28

Gnomad AFR AF: 0.942

Gnomad AMI AF: 0.703

Gnomad AMR AF: 0.777

Gnomad ASJ AF: 0.647

Gnomad EAS AF: 0.853

Gnomad SAS AF: 0.694

Gnomad FIN AF: 0.722

Gnomad MID AF: 0.655

Gnomad NFE AF: 0.712

Gnomad OTH AF: 0.761

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

GnomAD4 genome AF: 0.785 AC: 119063 AN: 151614 Hom.: 47533 Cov.: 28 AF XY: 0.784 AC XY: 58063 AN XY: 74030

Gnomad4 AFR AF: 0.942

Gnomad4 AMR AF: 0.777

Gnomad4 ASJ AF: 0.647

Gnomad4 EAS AF: 0.854

Gnomad4 SAS AF: 0.695

Gnomad4 FIN AF: 0.722

Gnomad4 NFE AF: 0.712

Gnomad4 OTH AF: 0.758

Alfa AF: 0.658 Hom.: 1882

Bravo AF: 0.797

Asia WGS AF: 0.750 AC: 2607 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	4.8
DANN	Benign	0.60

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: rs3785114; hg19: chr16-68372323;